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What are the treatments for Florid cemento-osseous dysplasia ? | How might florid cemento-osseous dysplasia be treated? In many cases florid cemento-osseous dysplasia does not require treatment, however careful follow-up may be warranted. When the condition causes discomfort, pain, or disfigurement, the treatment plan is tailored to the patient. The following article describes the treatment of florid cemento-osseous dysplasia in one patient. We recommend that you speak with your dentist to learn more about your treatment options and for referrals to local specialists. Minhas G, Hodge T, Gill DS. Orthodontic treatment and cemento-osseous dysplasia: a case report. J Orthod. 2008 Jun;35(2):90-5. You can also use the following tools to help you find specialists in your area. The Academy of General Dentistry has a tool for finding member dentists in your area. http://www.knowyourteeth.com/findadentist/ The American Association of Oral and Maxillofacial Surgeons offers the following tool for finding member oral and maxillofacial surgeons in your area. http://www.aaoms.org/findoms.php Sometimes with more rare diseases, it can be helpful to have an evaluation with a specialist at a major university hospital or academic medical center. Such facilities often have access to up-to-date testing and technology, a large group of health care providers and specialists to consult with, and research opportunities. | |
What is (are) Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ? | Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) is a milder and later onset form of a genetic condition known as congenital adrenal hyperplasia. Some people affected by the condition have no associated signs and symptoms while others experience symptoms of androgen (male hormone) excess. Women with NCAH are generally born with normal female genitalia. Later in life, signs and symptoms of the condition can vary but may include hirsutism, frontal baldness, delayed menarche (first period), menstrual irregularities, and infertility. Little has been published about males with NCAH. They may have early beard growth and relatively small testes. Typically, they have normal sperm counts. NCAH is caused by changes (mutations) in the CYP21A2 gene and is inherited in an autosomal recessive manner. Treatment is only necessary in people who are symptomatic and may include a glucocorticoid called dexamethasone. | |
What are the symptoms of Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ? | What are the signs and symptoms of Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency? The signs and symptoms of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) may develop any time after birth. Affected people generally experience symptoms of androgen (male hormone) excess such as acne, premature development of pubic hair, accelerated growth, advanced bone age, and reduced adult height. Women with NCAH are generally born with normal female genitalia. Later in life, signs and symptoms of the condition can vary but may include hirsutism, frontal baldness, delayed menarche (first period), menstrual irregularities, and infertility. Little has been published about males with NCAH. They may have early beard growth and relatively small testes. Typically, they have normal sperm counts. Some men and women affected by NCAH have no signs or symptoms of the condition. The Human Phenotype Ontology provides the following list of signs and symptoms for Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the thorax - Adrenal hyperplasia - Adrenogenital syndrome - Autosomal recessive inheritance - Fever - Growth abnormality - Gynecomastia - Hypertension - Hypoglycemia - Hypospadias - Renal salt wasting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What causes Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ? | What causes non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency? Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) is caused by changes (mutations) in the CYP21A2 gene. This gene provides instructions for making an enzyme called 21-hydroxylase, which is found in the adrenal glands. The adrenal glands are cone-shaped organs that sit on top of the kidneys and are responsible for releasing various types of hormones that the body needs to function. Mutations in CYP21A2 lead to deficient levels of 21-hydroxylase which cause low levels of hormones such as cortisol and/or aldosterone and an overproduction of androgens (male hormones such as testosterone). Cortisol is a hormone that affects energy levels, blood sugar levels, blood pressure, and the body's response to stress, illness, and injury. Aldosterone helps the body maintain the proper level of sodium (salt) and water and helps maintain blood pressure. Irregular levels of these hormones lead to the signs and symptoms of NCAH. The amount of functional 21-hydroxylase enzyme determines the severity of the disorder. People with NCAH have CYP21A2 mutations that result in the production of reduced amounts of the enzyme, but more enzyme than the classic form of congenital adrenal hyperplasia. | |
Is Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency inherited ? | Is non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency inherited? Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. | |
How to diagnose Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ? | How is non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency diagnosed? A diagnosis of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This may include a blood test to measure the concentration of 17-hydroxyprogesterone (17-OHP) and/or an adrenocorticotropic hormone (ACTH) stimulation test. An ACTH stimulation test involves measuring the concentration of 17-OHP in the blood before ACTH is administered and 60 min after ACTH is given. | |
What are the treatments for Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ? | How might non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency be treated? In some cases, people affected by non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) may not require any treatment. Many are asymptomatic throughout their lives, although symptoms may develop during puberty, after puberty, or post partum. If symptoms are present, a glucocorticoid called dexamethasone is often recommended. Dexamethasone can treat irregular menstruation, acne, and excess body hair (hirsutism). | |
What are the symptoms of Deafness, autosomal recessive 51 ? | What are the signs and symptoms of Deafness, autosomal recessive 51? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness, autosomal recessive 51. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Sensorineural hearing impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Ichthyosis and male hypogonadism ? | What are the signs and symptoms of Ichthyosis and male hypogonadism? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis and male hypogonadism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Anosmia - Congenital ichthyosiform erythroderma - Gonadotropin deficiency - Hyperchromic macrocytic anemia - Hypogonadotrophic hypogonadism - Intellectual disability - Male hypogonadism - Rod-cone dystrophy - Seizures - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Absence of Tibia ? | Absence of tibia is a rare birth defect that is characterized by deficiency of the tibia (the shinbone) with other bones of the lower leg relatively intact. The condition may affect one or both legs. Some cases are isolated birth defects, while others are associated with a variety of skeletal and other malformations. It can also be a part of a recognized syndrome such as Werner's syndrome, tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome, and CHARGE syndrome. The underlying cause is generally unknown. Although most isolated cases occur sporadically in people with no family history of the condition, absence of the tibia can rarely affect more than one family member. Treatment varies based on the severity of the condition, but generally involves surgery (i.e. amputation or reconstructive surgery with a prosthesis adapted to growth). | |
What are the symptoms of Absence of Tibia ? | What are the signs and symptoms of Absence of Tibia? The Human Phenotype Ontology provides the following list of signs and symptoms for Absence of Tibia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absent tibia - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Renal tubular acidosis with deafness ? | Renal tubular acidosis with deafness is characterized by kidney (renal) problems and sensorineural hearing loss. Infants with this condition may have problems with feeding and gaining weight (failure to thrive). Most children and adults with the condition have short stature, and many develop kidney stones. Other less common features include a softening and weakening of the bones and hypokalemic paralysis (extreme muscle weakness associated with low levels of potassium in the blood). Renal tubular acidosis with deafness is caused by mutations in the ATP6V1B1 or ATP6V0A4 gene. It is inherited in an autosomal recessive pattern. Treatment with sodium bicarbonate or sodium citrate can reduce or prevent many of the symptoms of this condition. | |
What are the symptoms of Renal tubular acidosis with deafness ? | What are the signs and symptoms of Renal tubular acidosis with deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal tubular acidosis with deafness. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Nephrolithiasis - Renal tubular acidosis - Sensorineural hearing impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type E ? | What are the signs and symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type E? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type E. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Stage 5 chronic kidney disease 5% Areflexia - Autosomal dominant inheritance - Axonal loss - Distal lower limb amyotrophy - Distal muscle weakness - Distal sensory impairment - Distal upper limb amyotrophy - Focal segmental glomerulosclerosis - Foot dorsiflexor weakness - Hammertoe - Hyporeflexia - Onion bulb formation - Pes cavus - Progressive - Proteinuria - Split hand - Steppage gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Febrile infection-related epilepsy syndrome ? | Febrile infection-related epilepsy syndrome (FIRES) is a severe brain disorder that develops in children after a fever. This condition results in sudden seizures and leads to declines in memory and intellectual ability. FIRES can also cause psychiatric disorders or problems with motor skills. The cause of FIRES is unknown, but may be related to infection, genetic susceptibility, an autoimmune disorder, or a problem with metabolism. Treatment involves antiepileptic medications to manage seizures, but they do not usually work well. | |
What are the symptoms of Febrile infection-related epilepsy syndrome ? | What are the signs and symptoms of Febrile infection-related epilepsy syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Febrile infection-related epilepsy syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Developmental regression 90% EEG abnormality 90% Reduced consciousness/confusion 90% Seizures 90% Abnormality of temperature regulation 50% Behavioral abnormality 50% Migraine 50% Myalgia 50% Sinusitis 50% Autoimmunity 7.5% Sudden cardiac death 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Glycogen storage disease type 4 ? | Glycogen storage disease type 4 (GSD 4) is part of a group of disorders which lead to abnormal accumulation of glycogen (a storage form of glucose) in various parts of the body. Symptoms of GSD 4 usually begin in infancy and typically include failure to thrive; enlarged liver and spleen (hepatosplenomegaly); and in many cases, progressive liver cirrhosis and liver failure. In rare cases individuals may have a form with non-progressive liver disease, or a severe neuromuscular form. GSD 4 is caused by mutations in the GBE1 gene and is inherited in an autosomal recessive manner. Treatment typically focuses on the specific symptoms that are present in each individual. | |
What are the symptoms of Glycogen storage disease type 4 ? | What are the signs and symptoms of Glycogen storage disease type 4? The signs and symptoms of glycogen storage disease type 4 (GSD 4) can vary greatly between affected individuals, and several forms of GSD 4 have been described. Most affected individuals have a "classic" form characterized by progressive cirrhosis of the liver, eventually leading to liver failure. In these individuals, signs and symptoms typically begin in infancy and include failure to grow and gain weight appropriately (failure to thrive); enlargement of the liver and spleen (hepatosplenomegaly); abnormal fluid build-up in the abdomen (ascites); and enlargement of veins in the wall of the esophagus (esophageal varices) which may rupture and cause coughing up of blood. Progressive liver disease in affected children can lead to the need for a liver transplant or life-threatening complications by approximately 5 years of age. There have been some reports of affected individuals having nonprogressive liver disease; very mildly affected individuals may not show signs and symptoms of the disease. There have also been reports of neuromuscular forms of GSD 4, most of which become apparent in late childhood. These may be characterized by skeletal muscle or heart muscle disease (myopathy or cardiomyopathy) caused by the accumulation of glycogen in the muscle tissue. Signs and symptoms in these cases may include muscle weakness or fatigue, exercise intolerance, and muscle wasting (atrophy). Complications with these forms may include heart failure. A more severe neuromuscular form that is apparent at birth has also been reported; this form may be characterized by generalized edema (swelling cause by fluid); decreased muscle tone (hypotonia); muscle weakness and wasting; joints having fixed positions (contractures); and neurologic involvement, which can cause life-threatening complications early in life. The Human Phenotype Ontology provides the following list of signs and symptoms for Glycogen storage disease type 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis 90% Abnormality of movement 90% Ascites 90% Hepatic failure 90% Muscular hypotonia 90% Hypertrophic cardiomyopathy 7.5% Autosomal recessive inheritance - Cardiomyopathy - Cirrhosis - Decreased fetal movement - Edema - Esophageal varix - Failure to thrive - Hepatosplenomegaly - Hydrops fetalis - Muscle weakness - Polyhydramnios - Portal hypertension - Skeletal muscle atrophy - Tubulointerstitial fibrosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What causes Glycogen storage disease type 4 ? | What causes glycogen storage disease type 4? Glycogen storage disease type 4 (GSD 4) is caused by mutations in the GBE1 gene. The GBE1 gene normally provides instructions for making the glycogen branching enzyme. This enzyme is necessary for making glycogen, a major source of stored energy in the body. Glycogen is formed by assembling many molecules of glucose. The glycogen branching enzyme is involved in the formation of "branches" of glucose chains, which help to make glycogen more compact for storage and allows it to break down more easily when it is needed for energy. The GBE1 gene mutations that cause GSD 4 lead to a decrease in the amount or functionality of the glycogen branching enzyme. Glycogen is then not formed properly, and substances called polyglucosan bodies build up in cells throughout the body, causing the signs and symptoms of the condition. | |
Is Glycogen storage disease type 4 inherited ? | How is glycogen storage disease type 4 inherited? Glycogen storage disease type 4 is inherited in an autosomal recessive manner. This means that an individual must have 2 abnormal copies of the GBE1 gene to be affected (one abnormal copy inherited from each parent). Individuals with one abnormal copy of the GBE1 gene, such as the parents of an affected individual, are referred to as carriers. Carriers typically do not have signs or symptoms of an autosomal recessive condition. When two carriers of an autosomal recessive condition are having children, each of their children has a 25% (1 in 4) risk to be affected, a 50% (1 in 2) risk to be a carrier like each parent, and a 25% chance to not be a carrier and not be affected. | |
What are the treatments for Glycogen storage disease type 4 ? | How might glycogen storage disease type 4 be treated? Management of glycogen storage disease type 4 typically focuses on the signs and symptoms that are present in each individual. Studies have show that in some cases, strict dietary therapy can help to maintain normal levels of glucose in the blood, reduce liver size, reduce symptoms, and allow for improved growth and development. Growing evidence indicates that a high-protein diet may improve muscle function in individuals with weakness or exercise intolerance and slow disease progression. Supportive care is typically needed for complications such as liver failure, heart failure, and neurologic dysfunction. Liver transplantation may be necessary for individuals with progressive liver disease. Individuals with cardiomyopathy may require the use of certain medications. | |
What is (are) Spinocerebellar ataxia 15 ? | Spinocerebellar ataxia 15 (SCA15) is a neurological condition characterized by slowly progressive gait and limb ataxia, often in combination with eye movement abnormalities and balance, speech and swallowing difficulties. The onset of symptoms typically occurs between ages 7 and 66 years. The ability to walk independently is often maintained for many years following onset of symptoms. SCA15 is caused by mutations in the ITPR1 gene. It is inherited in an autosomal dominant manner. Diagnosis is based on clinical history, physical examination, molecular genetic testing, and exclusion of other similar diseases. There is no effective treatment known to modify disease progression. Patients may benefit from occupational and physical therapy for gait dysfunction and speech therapy for dysarthria. | |
What are the symptoms of Spinocerebellar ataxia 15 ? | What are the signs and symptoms of Spinocerebellar ataxia 15? Spinocerebellar ataxia 15 (SCA15) is characterized by slowly progressive gait and limb ataxia, often in combination with ataxic dysarthria, titubation, upper limb postural tremor (which occurs when a person tries to maintain a position against gravity, such as holding the arms outstretched), mild hyperreflexia (exaggerated reflexes), gaze-evoked nystagmus, and impaired vestibulo-ocular reflex gain (an inability to stabilize the eyes during small head tremors, which makes it difficult to read, etc.). Mild dysphagia and movement-induced oscillopsia (a bouncing and blurring of vision) have been observed in some patients. Symptoms typically present between the ages of 7 and 66 years. Gait ataxia and tremor are often the first noticeable symptoms. The ability to walk independently may be maintained for many years (or even decades) following onset of symptoms. The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 15. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - Autosomal dominant inheritance - Cerebellar atrophy - Dysarthria - Dysmetric saccades - Gait ataxia - Gaze-evoked horizontal nystagmus - Hyperreflexia - Impaired smooth pursuit - Juvenile onset - Limb ataxia - Postural tremor - Scanning speech - Slow progression - Truncal ataxia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Chronic fatigue syndrome ? | Chronic fatigue syndrome, also known as systemic exertion intolerance disease, is a condition that causes extreme, long-lasting fatigue which can limit the ability to participate in ordinary, daily activities. It generally occurs in young adults between the ages of 20 and 40 and is twice as common in women. The main symptom is disabling fatigue that does not improve with rest. Other signs and symptoms may include muscle pain; joint pain; concentration and memory problems; headaches; sleep problems; fever; sore throat; and/or tender lymph nodes. The cause of chronic fatigue syndrome is not known yet. Some researchers have proposed that this condition is caused by viral infections or by immunological, hormonal or mental or psychiatric problems, but none have been proved. It is also believed that there may be a genetic predisposition for this condition and stress-related events act as triggers. Because the symptoms are similar to many conditions that need to be ruled out, the diagnosis make take some time to be made and patients are frequently misunderstood. Those who are affected are typically highly functioning individuals who are "struck down" with this disease. There is still no cure for this condition but there are several clinical trials. Current treatment consists of cognitive and/or behavioral therapy and focuses on improving symptoms and may include medications to treat pain, sleep disorders and other associated problems. There is significant controversy and debate in the medical literature about the relationship between myalgic encephalomyelitis and chronic fatigue syndrome. Unfortunately there is no consensus on nomenclature or classification for these disorders, and different countries, organizations, and researchers continue to use different names to describe these conditions. Until a global consensus is reached on how to name and classify these disorders, confusion will persist. | |
How to diagnose Chronic fatigue syndrome ? | How is chronic fatigue syndrome diagnosed? No specific diagnostic tests are available. Though there is no definitive diagnostic test, the diagnosis can be made if the patient has a typical history, and no abnormality can be detected on the exam or in the screening tests. The Committee on the Diagnostic Criteria for Myalgic Encephalomyelitis/Chronic Fatigue Syndrome, The Board of Select Populations and the Institute of Medicine proposed a diagnosis criteria which requires that the patient have the following three symptoms: 1. A chronic fatigue that interferes with the daily activities and work, which is often profound, is of new or definite onset (not lifelong), is not the result of ongoing excessive exertion or other medical conditions, and is not greatly alleviated by rest. 2. Post-exertional malaise. 3. Unrefreshing sleep. At least one of the two following symptoms is also required: 1. Cognitive impairment (imparirment of short memory or concentration). 2. Orthostatic intolerance (Onset of symptoms when standing upright that are improved by lying back down). Other symptoms include post exertion illness lasting more than 24 hours, muscle pain, pain in the joints, headaces, tender lymph nodes and sore throat. These symptoms should have persisted or recurred during 6 or more consecutive months of illness and they cannot have first appeared before the fatigue. The following tests are expected to be normal in patients with chronic fatigue syndrome: Complete blood count with differential count; Chemistry screen; Thyroid stimulating hormone level; Other tests based in the patients symptoms like immunologic tests or serologic tests. | |
What are the treatments for Chronic fatigue syndrome ? | How might chronic fatigue syndrome be treated? Treatment options for chronic fatigue syndrome (CFS) are limited.[9440] Treatment is largely supportive and is focused on the specific symptoms present in each individual. In most cases, symptoms of CFS lessen over time. Many therapies have been tried, but only cognitive behavioral therapy (CBT) and graded exercise therapy reportedly appear to produce meaningful benefit. CBT typically involves a series of one-hour sessions designed to alter beliefs and behaviors that might delay recovery. Graded exercise therapy can be beneficial because prolonged lack of exercise may worsen the symptoms of the condition and should be discouraged.[9440] Gradual introduction of regular aerobic exercise, such as walking, swimming, cycling, or jogging, under close medical supervision may reduce fatigue and improve physical function. The goal is to have 30 minutes of light exercise five times a week. To avoid overexertion it is recommended to set a target heart rate range, generally <100 beats per minute. Graded exercise should be always supervised by a physical therapist or exercise therapist. In some studies, women with this condition were found to have low normal fitness on treadmill testing with no indication of heart or lung problems. Maximal testing did not result in worse fatigue or other symptoms. Because many people who have CFS are also depressed, treating the depression can make it easier to cope with the problems associated with CFS. Low doses of some antidepressants may help improve sleep and relieve pain.[6269] A number of medications, special diets and vitamin supplements have been evaluated in individuals with CFS, but none have been proven effective. Although there have been a number of viruses that were initially reported to cause CFS, additional studies have not proven this.[9440] Trials of antiviral agents have been ineffective in relieving the symptoms of CFS. Several clinical trials aiming to find effective treatment are currently ongoing. | |
What is (are) Mycetoma ? | Mycetoma is a chronic infection that is caused by fungi or actinomycetes (bacteria that produce filaments, like fungi). The first symptom of the condition is generally painless swelling beneath the skin, which progresses to a nodule (lump) over several years. Eventually, affected people experience massive swelling and hardening of the affected area; skin rupture; and formation of sinus tracts (holes) that discharge pus and grains filled with organisms. Some affected people have no discomfort while others report itching and/or pain. Mycetoma is rare in the United States, but is commonly diagnosed in Africa, Mexico and India. In these countries, it occurs most frequently in farmers, shepherds, and people living in rural areas. Frequent exposure to penetrating wounds by thorns or splinters is a risk factor. Treatment varies based on the cause of the condition and may include antibiotics or antifungal medications. | |
What are the symptoms of Multiple self healing squamous epithelioma ? | What are the signs and symptoms of Multiple self healing squamous epithelioma? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple self healing squamous epithelioma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the skin - Autosomal dominant inheritance - Neoplasm - Onset - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Metaplastic carcinoma of the breast ? | Metaplastic carcinoma of the breast is a rare form of breast cancer. The tumor cells differ in type from that of the typical ductal or lobular breast cancers. The cells look like skin cells or cells that make bone. Some women experience no early signs or symptoms, while others experience general symptoms of breast cancers, such as new breast lumps. Treatment of metaplastic carcinoma of the breast is similar to that of invasive ductal cancer. | |
What is (are) Prader-Willi habitus, osteopenia, and camptodactyly ? | Prader-Willi habitus, osteopenia, and camptodactyly syndrome is characterized by intellectual disability, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has only been described in two brothers and in one isolated case in a different family. Other symptoms included unusual face, deformity of the spinal column, osteoporosis and a history of frequent fractures. It is similar to Prader-Willi syndrome, but the authors concluded that it is a different condition. The cause was unknown in the reported cases. | |
What are the symptoms of Prader-Willi habitus, osteopenia, and camptodactyly ? | What are the signs and symptoms of Prader-Willi habitus, osteopenia, and camptodactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Prader-Willi habitus, osteopenia, and camptodactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Camptodactyly of finger 90% Camptodactyly of toe 90% Cognitive impairment 90% Hypoplasia of penis 90% Obesity 90% Recurrent fractures 90% Abnormal diaphysis morphology 50% Brachydactyly syndrome 50% Clinodactyly of the 5th finger 50% Cryptorchidism 50% Epicanthus 50% Eunuchoid habitus 50% Kyphosis 50% Overfolded helix 50% Prominent nasal bridge 50% Short foot 50% Short neck 50% Short stature 50% Strabismus 50% Toe syndactyly 50% Upslanted palpebral fissure 50% Abnormality of the philtrum 7.5% Abnormality of the ureter 7.5% Aplasia/Hypoplasia of the earlobes 7.5% Abnormality of the genital system - Autosomal recessive inheritance - Camptodactyly - Enlarged epiphyses - Intellectual disability - Joint contracture of the hand - Osteopenia - Osteoporosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Frontonasal dysplasia ? | Frontonasal dysplasia is a very rare disorder that is characterized by abnormalities affecting the head and facial (craniofacial) region. Major physical features may include widely spaced eyes (ocular hypertelorism); a flat, broad nose; and a widow's peak hairline. In some cases, the tip of the nose may be missing; in more severe cases, the nose may separate vertically into two parts. In addition, an abnormal skin-covered gap in the front of the head (anterior cranium occultum) may also be present in some cases. Other features may include a cleft lip, other eye abnormalities (coloboma, cataract, microphthalmia), hearing loss, and/or agenesis of the corpus callosum. The majority of affected individuals have normal intelligence. The exact cause of frontonasal dysplasia is not known. Most cases occur randomly, for no apparent reason (sporadically). However, some cases are thought to run in families. Researchers have suggested that this condition is caused by mutations in the ALX3 gene and is inherited in an autosomal recessive fashion. | |
What are the symptoms of Frontonasal dysplasia ? | What are the signs and symptoms of Frontonasal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Frontonasal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypertelorism 90% Median cleft lip 50% Midline defect of the nose 50% Aplasia/Hypoplasia of the corpus callosum 7.5% Camptodactyly of finger 7.5% Choanal atresia 7.5% Cleft palate 7.5% Clinodactyly of the 5th finger 7.5% Cognitive impairment 7.5% Conductive hearing impairment 7.5% Craniosynostosis 7.5% Cryptorchidism 7.5% Encephalocele 7.5% Holoprosencephaly 7.5% Hydrocephalus 7.5% Low-set, posteriorly rotated ears 7.5% Preauricular skin tag 7.5% Short stature 7.5% Single transverse palmar crease 7.5% Webbed neck 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Polymicrogyria ? | Polymicrogyria is a condition characterized by abnormal development of the brain before birth. Specifically, the surface of the brain develops too many folds which are unusually small. The signs and symptoms associated with the condition vary based on how much of the brain and which areas of the brain are affected; however, affected people may experience recurrent seizures (epilepsy); delayed development; crossed eyes; problems with speech and swallowing; and muscle weakness or paralysis. Bilateral forms (affecting both sides of the brain) tend to cause more severe neurological problems. Polymicrogyria can result from both genetic and environmental causes. It may occur as an isolated finding or as part of a syndrome. Treatment is based on the signs and symptoms present in each person. | |
What are the symptoms of Hypercholesterolemia, autosomal dominant ? | What are the signs and symptoms of Hypercholesterolemia, autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypercholesterolemia, autosomal dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Corneal arcus - Coronary artery disease - Hypercholesterolemia - Xanthelasma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Spastic paraplegia 11 ? | Spastic paraplegia 11 is a form of hereditary spastic paraplegia. People with spastic paraplegia 11 experience progressive muscle stiffness and eventual paralysis of the lower limbs, as well as a range of other neurologic symptoms. The tissue connecting the left and right halves of the brain (corpus callosum) is abnormally thin in individuals with this condition. Spastic paraplegia 11 is caused by mutations in the SPG11 gene and is passed through families in an autosomal recessive fashion. | |
What are the symptoms of Spastic paraplegia 11 ? | What are the signs and symptoms of Spastic paraplegia 11? Signs and symptoms of spastic paraplegia 11, include: Spasticity (progressive muscle stiffness) Paraplegia (eventual paralysis of the lower limbs) Numbness, tingling, or pain in the arms and legs Disturbance in the nerves used for muscle movement Intellectual disability Exaggerated reflexes of the lower limbs Speech difficulties Reduced bladder control Muscle wasting Less common features, include: Difficulty swallowing High-arched feet Scoliosis Involuntary movements of the eyes Age at time of symptom onset varies from infancy to early adulthood, with onset in infancy to adolescence being most common. Learning disability may begin in childhood. Most people experience a decline in intellectual ability and an increase in muscle weakness and nerve abnormalities over time. As the condition progresses, some people require wheelchair assistance (often 10 to 20 years after symptom onset). The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 11. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the corpus callosum 90% Cerebral cortical atrophy 90% Gait disturbance 90% Incoordination 90% Neurological speech impairment 90% Seizures 90% Ventriculomegaly 90% Abnormality of the periventricular white matter - Adult onset - Agenesis of corpus callosum - Ankle clonus - Ataxia - Autosomal recessive inheritance - Babinski sign - Childhood onset - Decreased number of peripheral myelinated nerve fibers - Degeneration of the lateral corticospinal tracts - Distal peripheral sensory neuropathy - Dysarthria - Dysphagia - Gaze-evoked nystagmus - Hyperreflexia - Hypoplasia of the corpus callosum - Impaired vibration sensation in the lower limbs - Intellectual disability - Knee clonus - Lower limb muscle weakness - Lower limb spasticity - Macular degeneration - Mental deterioration - Motor polyneuropathy - Obesity - Pes cavus - Progressive - Retinal degeneration - Sensory neuropathy - Spastic gait - Spastic paraplegia - Specific learning disability - Thenar muscle atrophy - Tip-toe gait - Urinary bladder sphincter dysfunction - Urinary incontinence - Urinary urgency - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Hydrocephalus obesity hypogonadism ? | What are the signs and symptoms of Hydrocephalus obesity hypogonadism? The Human Phenotype Ontology provides the following list of signs and symptoms for Hydrocephalus obesity hypogonadism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Cryptorchidism 90% Hydrocephalus 90% Hypoplasia of penis 90% Obesity 90% Short stature 90% Respiratory insufficiency 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Leukodystrophy ? | A leukodystrophy is a type of rare genetic disorder that affects the brain, spinal cord, and other nerves in the body. It is caused by destruction of the white matter of the brain. The white matter degrades due to defects of the myelin, which is a fatty covering that insulates nerves in the brain. Myelin is needed to protect the nerves and the nerves can't function normally without it. These disorders are progressive, meaning they tend to get worse with time. The leukodystrophies are a group of disorders caused by spelling mistakes (mutations) in the genes involved in making myelin. Specific leukodystrophies include metachromatic leukodystrophy, Krabbe leukodystrophy, X-linked adrenoleukodystrophy, Pelizaeus-Merzbacher disease, Canavan disease, and Alexander disease. The most common symptom of a leukodystrophy is a decline in functioning of an infant or child who previously appeared healthy. This gradual loss may be seen with issues in body tone, movements, gait, speech, ability to eat, vision, hearing, and behavior. | |
What are the symptoms of Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive ? | What are the signs and symptoms of Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arthritis - Autosomal recessive inheritance - B lymphocytopenia - Conjunctivitis - Diarrhea - Failure to thrive - Failure to thrive secondary to recurrent infections - Mastoiditis - Meningitis - Otitis media - Panhypogammaglobulinemia - Pneumonia - Recurrent opportunistic infections - Severe combined immunodeficiency - Severe T lymphocytopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Loose anagen hair syndrome ? | What are the signs and symptoms of Loose anagen hair syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Loose anagen hair syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair whorl 90% Abnormality of hair texture 90% Iris coloboma 50% Childhood onset - Fair hair - Juvenile onset - Sparse hair - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Cerulean cataract ? | Cerulean cataracts are opaque areas that develop in the lens of the eye that often have a bluish or whitish color. They may be present at birth or develop in very early childhood, but may not be diagnosed until adulthood. They are usually bilateral and progressive. Infants can be asymptomatic, but may also be visually impaired from birth and develop nystagmus and amblyopia. In adulthood, the cataracts may progress, making lens removal necessary. Cerulean cataracts may be caused by mutations in several genes, including the CRYBB2, CRYGD, and MAF genes, and are inherited in an autosomal dominant manner. No treatment is known to prevent cerulean cataracts, but frequent evaluations and cataract surgery are typically required to prevent amblyopia as the opacities progress. | |
What are the symptoms of Cerulean cataract ? | What are the signs and symptoms of Cerulean cataract? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerulean cataract. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cerulean cataract 100% Macular hypoplasia 5% Retinal detachment 5% Autosomal dominant inheritance - Congenital cataract - Cortical pulverulent cataract - Iris coloboma - Microcornea - Sutural cataract - Visual loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the treatments for Cerulean cataract ? | How might cerulean cataracts be treated? No treatment is known to prevent cerulean cataracts, and there is currently no cure for the condition. Frequent eye evaluations and eventual cataract surgery are typically required to prevent amblyopia (vision loss) as the opacities progress. The symptoms of early cataracts may be improved with new eyeglasses, brighter lighting, anti-glare sunglasses, or magnifying lenses. However, if these measures do not help, surgery is often the only effective treatment. Surgery involves removing the cloudy lens and replacing it with an artificial lens. Surgery is often considered when vision loss regularly interferes with everyday activities, such as driving, reading, or watching TV. | |
What are the symptoms of Osteogenesis imperfecta type VII ? | What are the signs and symptoms of Osteogenesis imperfecta type VII? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta type VII. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absent pulmonary artery - Autosomal recessive inheritance - Blue sclerae - Bowing of the legs - Breech presentation - Coxa vara - Crumpled long bones - Death in infancy - Decreased calvarial ossification - Delayed cranial suture closure - Externally rotated/abducted legs - Hydronephrosis - Hypoplastic pulmonary veins - Long philtrum - Micromelia - Multiple prenatal fractures - Multiple rib fractures - Narrow chest - Osteopenia - Pectus excavatum - Proptosis - Protrusio acetabuli - Recurrent fractures - Rhizomelia - Round face - Scoliosis - Vertebral compression fractures - Wide anterior fontanel - Wide cranial sutures - Wormian bones - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Paroxysmal extreme pain disorder ? | Paroxysmal extreme pain disorder is a form of peripheral neuropathy characterized by skin redness and warmth (flushing) and attacks of severe pain in various parts of the body. Early in life, the pain is often concentrated in the lower part of the body and may be triggered by a bowel movement. As a person ages, the location of the pain may change, with attacks affecting the head and face. Triggers of these pain attacks include changes in temperature, emotional distress or eating spicy foods and drinking cold beverages. Paroxysmal extreme pain disorder is caused by mutations in the SCN9A gene. This condition is inherited in an autosomal dominant pattern. Treatment may include medications used to manage chronic neuropathic pain (anticonvulsants) such as the sodium channel blocker carbamazepine. | |
What are the symptoms of Paroxysmal extreme pain disorder ? | What are the signs and symptoms of Paroxysmal extreme pain disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Paroxysmal extreme pain disorder. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Constipation 50% Autosomal dominant inheritance - Bradycardia - Impaired pain sensation - Lacrimation abnormality - Mandibular pain - Neonatal onset - Ocular pain - Tachycardia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Torticollis, familial ? | What are the signs and symptoms of Torticollis, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Torticollis, familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Facial asymmetry - Torticollis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Lateral meningocele syndrome ? | What are the signs and symptoms of Lateral meningocele syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lateral meningocele syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Atresia of the external auditory canal 90% Conductive hearing impairment 90% Dolichocephaly 90% Dural ectasia 90% Hypoplasia of the zygomatic bone 90% Low-set, posteriorly rotated ears 90% Meningocele 90% Narrow face 90% Ptosis 90% Wormian bones 90% Abnormal form of the vertebral bodies 50% Abnormality of the teeth 50% Craniofacial hyperostosis 50% Joint hypermobility 50% Low posterior hairline 50% Pectus excavatum 50% Prominent metopic ridge 50% Scoliosis 50% Short neck 50% Short stature 50% Umbilical hernia 50% Arnold-Chiari malformation 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Cryptorchidism 7.5% Epicanthus 7.5% Hyperlordosis 7.5% Hypertelorism 7.5% Iris coloboma 7.5% Kyphosis 7.5% Muscular hypotonia 7.5% Proptosis 7.5% Sensorineural hearing impairment 7.5% Syringomyelia 7.5% Ventricular septal defect 7.5% Abnormality of the middle ear ossicles - Abnormality of the rib cage - Abnormality of the skin - Arachnoid cyst - Arnold-Chiari type I malformation - Autosomal dominant inheritance - Biconcave vertebral bodies - Dental crowding - High palate - Inguinal hernia - Long philtrum - Low-set ears - Malar flattening - Patent ductus arteriosus - Platybasia - Posteriorly rotated ears - Sclerosis of skull base - Short nasal bridge - Smooth philtrum - Vertebral fusion - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Spastic paraplegia 14 ? | What are the signs and symptoms of Spastic paraplegia 14? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 14. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - Autosomal recessive inheritance - Babinski sign - Hyperreflexia - Intellectual disability, mild - Lower limb muscle weakness - Lower limb spasticity - Motor axonal neuropathy - Pes cavus - Progressive - Spastic gait - Spastic paraplegia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Eyebrows duplication of, with stretchable skin and syndactyly ? | What are the signs and symptoms of Eyebrows duplication of, with stretchable skin and syndactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Eyebrows duplication of, with stretchable skin and syndactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of calvarial morphology 90% Abnormality of the eyebrow 90% Abnormality of the eyelashes 90% Cryptorchidism 90% Finger syndactyly 90% Ptosis 90% Shagreen patch 90% 2-3 toe syndactyly - 2-4 finger syndactyly - Autosomal recessive inheritance - Hyperextensible skin of chest - Hyperextensible skin of face - Hypermobility of interphalangeal joints - Long eyelashes - Partial duplication of eyebrows - Periorbital wrinkles - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Primrose syndrome ? | Primrose syndrome is characterized by severe learning disabilities, bony ear cartilage, a hard bony growth in the roof of the mouth, cystic changes on the top of the upper arm and leg bones, cataracts, hearing loss, adult-onset progressive ataxia and nervous system disease, and brain calcification. The cause of the condition is currently unknown. Treatment is supportive. | |
What are the symptoms of Primrose syndrome ? | What are the signs and symptoms of Primrose syndrome? Signs and symptoms of primrose syndrome that have been reported in the literature include: Severe learning disabilities Boney ear cartilage Cystic changes in to top of the arm and leg bones Cataracts (clouding of the lens of the eyes) Recurrent ear infections Hearing loss Pogressive ataxia (uncoordinated movement) often with onset in Pyramidal signs (which shows there is a problem with the nervous system) Muscle wasting of the lower limbs Torus palatinus (a hard bony growth in the roof of the mouth) Brain calcification (mineral deposits in the brain) Sparse hair Unique facial features (e.g., deep-set eyes, protruding lower jaw, droopy eyelids) Schizophrenia and a germ cell tumor was also reported in isolated cases. The Human Phenotype Ontology provides the following list of signs and symptoms for Primrose syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of the hip bone 90% Abnormality of the palate 90% Anemia 90% Bone cyst 90% Calcification of the auricular cartilage 90% Cataract 90% Cognitive impairment 90% Conductive hearing impairment 90% Developmental regression 90% Gait disturbance 90% Hydrocephalus 90% Kyphosis 90% Macrotia 90% Myopathy 90% Osteolysis 90% Scoliosis 90% Abnormality of the testis 50% Anonychia 50% Gynecomastia 50% Malar flattening 50% Narrow chest 50% Pectus excavatum 50% Plagiocephaly 50% Seizures 50% Short stature 50% Synophrys 50% Aggressive behavior 5% Autism 5% Bilateral cryptorchidism 5% Cerebral calcification 5% Self-injurious behavior 5% Absent axillary hair - Absent facial hair - Basilar impression - Brachycephaly - Broad forehead - Deeply set eye - Distal amyotrophy - Generalized osteoporosis - Genu valgum - Hearing impairment - Hip contracture - Hypoplasia of midface - Hypoplasia of the corpus callosum - Hypoplasia of the maxilla - Intellectual disability - Irregular vertebral endplates - Knee flexion contracture - Macrocephaly - Muscular hypotonia - Narrow iliac wings - Neurodegeneration - Pes cavus - Posterior polar cataract - Posterior scalloping of vertebral bodies - Ptosis - Short distal phalanx of finger - Sporadic - Superiorly displaced ears - Thick lower lip vermilion - Truncal obesity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What causes Primrose syndrome ? | What causes primrose syndrome? The cause of primrose syndrome is currently unknown. Cases of affected males and a affected female have been reported in the literature. All cases seem to be sporadic. Sporadic refers to either a genetic disorder that occurs for the first time in a family due to a new mutation or the chance occurrence of a non-genetic disorder or abnormality that is not likely to recur in a family. | |
What are the symptoms of Preaxial polydactyly type 1 ? | What are the signs and symptoms of Preaxial polydactyly type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Preaxial polydactyly type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Preaxial hand polydactyly - Radial deviation of thumb terminal phalanx - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Beardwell syndrome ? | What are the signs and symptoms of Beardwell syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Beardwell syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Osteoarthritis 90% Obesity 50% Palmoplantar keratoderma 50% Autosomal dominant inheritance - Punctate palmar and solar hyperkeratosis - Vertebral hyperostosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Hairy cell leukemia ? | Hairy cell leukemia is a rare, slow-growing cancer of the blood in which the bone marrow makes too many B cells (lymphocytes), a type of white blood cell that fights infection. The condition is named after these excess B cells which look 'hairy' under a microscope. As the number of leukemia cells increases, fewer healthy white blood cells, red blood cells and platelets are produced. The underlying cause of this condition is unknown. While there is no cure, treatment can lead to remission which can last for years. | |
What is (are) Camurati-Engelmann disease ? | Camurati-Engelmann disease is a genetic condition that mainly affects the bones. People with this disease have increased bone density, particularly affecting the long bones of the arms and legs. In some cases, the skull and hip bones are also affected. The thickened bones can lead to pain in the arms and legs, a waddling walk, muscle weakness, and extreme tiredness. The age at which affected individuals first experience symptoms varies greatly; however, most people with this condition develop pain or weakness by adolescence. Camurati-Engelmann disease is caused by a mutation in the TGFB1 gene which is inherited in an autosomal dominant fashion. In some instances, people have the gene mutation that causes Camurati-Engelmann disease but never develop the characteristic features of this condition. In others, features are present, but a mutation cannot be identified. These cases are referred to as Camurati-Engelmann disease type II. Treatment for Camurati-Engelman disease depends on many factors including the signs and symptoms present in each person and the severity of the condition. | |
What are the symptoms of Camurati-Engelmann disease ? | What are the signs and symptoms of Camurati-Engelmann disease? People with Camurati-Engelmann disease have increased bone density, particularly affecting the long bones of the arms and legs (tibia, femur, humerus, ulna, radius). In some cases, the skull and hip bones are also affected. The thickened bones can lead to pain in the arms and legs, a waddling walk, muscle weakness, and extreme tiredness. An increase in the density of the skull results in increased pressure on the brain and can cause a variety of neurological problems, including headaches, hearing loss, vision problems, dizziness (vertigo), ringing in the ears (tinnitus), and facial paralysis. The added pressure that thickened bones put on the muscular and skeletal systems can cause abnormal curvature of the spine (scoliosis), joint deformities (contractures), knock knees, and flat feet (pes planus). Other features of Camurati-Engelmann disease include abnormally long limbs in proportion to height, a decrease in muscle mass and body fat, and delayed puberty. In the most severe cases, the mandibula (jaw), vertebrae, thoracic cage, shoulder girdle, and carpal (hands, wrist) and tarsal (foot, ankle) bones are involved. Radiographically (on X-ray), the shafts of long bones show symmetric and progressive widening and malformation (diaphyseal dysplasia). Vascular (Raynaud's phenomenon) and hematological (anemia, leukopenia (low level of white blood cells), increased erythrocyte sedimentation rate) features and hepatosplenomegaly are commonly associated with the disease. The age at which affected individuals first experience symptoms varies greatly; however, most people with this condition develop pain or weakness by adolescence. The Human Phenotype Ontology provides the following list of signs and symptoms for Camurati-Engelmann disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the femur 90% Abnormality of the humerus 90% Abnormality of the ulna 90% Aplasia/Hypoplasia of the radius 90% Bone pain 90% Hyperostosis 90% Skeletal dysplasia 90% Abnormality of the metaphyses 50% Limitation of joint mobility 50% Skeletal muscle atrophy 50% Abnormal facial shape 7.5% Abnormality of the genital system 7.5% Abnormality of the hip bone 7.5% Abnormality of the urinary system 7.5% Acrocyanosis 7.5% Anemia 7.5% Anorexia 7.5% Carious teeth 7.5% Delayed eruption of teeth 7.5% Disproportionate tall stature 7.5% Facial palsy 7.5% Feeding difficulties in infancy 7.5% Frontal bossing 7.5% Genu valgum 7.5% Glaucoma 7.5% Hearing impairment 7.5% Hepatomegaly 7.5% Hyperlordosis 7.5% Hypertrophic cardiomyopathy 7.5% Incoordination 7.5% Kyphosis 7.5% Leukopenia 7.5% Neurological speech impairment 7.5% Optic atrophy 7.5% Pes planus 7.5% Proptosis 7.5% Scoliosis 7.5% Splenomegaly 7.5% Autosomal dominant inheritance - Bone marrow hypocellularity - Cortical thickening of long bone diaphyses - Decreased subcutaneous fat - Delayed puberty - Diaphyseal sclerosis - Diplopia - Easy fatigability - Headache - Juvenile onset - Limb pain - Mandibular prognathia - Optic nerve compression - Poor appetite - Sclerosis of skull base - Slender build - Waddling gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What causes Camurati-Engelmann disease ? | What causes Camurati-Engelmann disease? Mutations in the TGFB1 gene cause Camurati-Engelmann disease. The TGFB1 gene provides instructions for producing a protein called transforming growth factor beta-1 (TGF-1). The TGF-1 protein helps control the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement (motility), and the self-destruction of cells (apoptosis). The TGF-1 protein is found throughout the body and plays a role in development before birth, the formation of blood vessels, the regulation of muscle tissue and body fat development, wound healing, and immune system function. TGF-1 is particularly abundant in tissues that make up the skeleton, where it helps regulate bone growth, and in the intricate lattice that forms in the spaces between cells (the extracellular matrix). Within cells, the TGF-1 protein is turned off (inactive) until it receives a chemical signal to become active. The TGFB1 gene mutations that cause Camurati-Engelmann disease result in the production of a TGF-1 protein that is always turned on (active). Overactive TGF-1 proteins lead to increased bone density and decreased body fat and muscle tissue, contributing to the signs and symptoms of Camurati-Engelmann disease. Some individuals with Camurati-Engelmnan disease do not have identified mutations in the TGFB1 gene. In these cases, the cause of the condition is unknown. | |
Is Camurati-Engelmann disease inherited ? | How is Camurati-Engelmann disease inherited? Camurati-Engelmann disease is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. In some cases, an affected person inherits the mutated gene from an affected parent. In other cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation. When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation. | |
How to diagnose Camurati-Engelmann disease ? | How is Camurati-Engelmann disease diagnosed? Diagnosis of Camurati-Engelmann disease is based on physical examination and radiographic findings and can be confirmed by molecular genetic testing. TGFB1 is the only gene known to be associated with Camurati-Engelmann disease. Sequence analysis identifies mutations in TGFB1 in about 90% of affected individuals and is clinically available. Individuals with a family history of Camurati-Engelmann disease or symptoms associated with this condition may wish to consult with a genetics professional. Visit the Genetic Resources section to learn how you can locate a genetics professional in your community. | |
What are the treatments for Camurati-Engelmann disease ? | How might Camurati-Engelmann disease (CED) be treated? Several medical therapies including corticosteroids, biphosphonates, and non-steroidal anti-inflammatory drugs (NSAIDs) have been used to manage the symptoms of Camurati-Engelmann disease (CED). NSAIDs and bisphosphonates have not been proven to be effective for most people with CED. Corticosteroids may relieve some of the symptoms such as pain and weakness and can also improve gait and exercise tolerance, however corticosteroids have serious side effects with long term use. More recently, losartan, an angiotensin II type 1 receptor antagonist, has been reported to reduce limb pain and increase muscle strength in multiple case reports. However, the effectiveness of losartan needs more study to determine if it is effective for those with CED and without major side effects. Exercise programs when they are tolerated have also been found to be beneficial. Please note, case reports report the clinical findings associated with individual cases. It is important to keep in mind that the clinical findings documented in these case reports are based on specific individuals and may differ from one affected person to another. | |
What is (are) Familial mixed cryoglobulinemia ? | Familial mixed cryoglobulinemia is a rare condition that is characterized by the presence of abnormal proteins (called cryoglobulins) in the blood. These proteins clump together into a "gel-like" consistency at low temperatures, which can lead to inflammation, blocked blood vessels, and a variety of health problems. The associated signs and symptoms vary from person to person depending on which parts of the body or organ systems are affected; however, common features include purpura, joint pain, breathing problems, muscle pain, fatigue, glomerulonephritis, Raynaud's phenomenon, and skin abnormalities. The underlying genetic cause of familial mixed cryoglobulinemia is currently unknown. Although there are only a few reported families with this condition, it appears to be inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. In severe cases, medications that suppress the immune system may be necessary. | |
What are the symptoms of Familial mixed cryoglobulinemia ? | What are the signs and symptoms of Familial mixed cryoglobulinemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial mixed cryoglobulinemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of temperature regulation 90% Acrocyanosis 90% Mediastinal lymphadenopathy 90% Skin ulcer 90% Subcutaneous hemorrhage 90% Vasculitis 90% Abdominal pain 50% Arthralgia 50% Arthritis 50% Gangrene 50% Gastrointestinal infarctions 50% Glomerulopathy 50% Hematuria 50% Hepatic failure 50% Hepatomegaly 50% Myalgia 50% Polyneuropathy 50% Proteinuria 50% Renal insufficiency 50% Splenomegaly 50% Gastrointestinal hemorrhage 7.5% Keratoconjunctivitis sicca 7.5% Abnormality of blood and blood-forming tissues - Anasarca - Autosomal dominant inheritance - Chronic kidney disease - Cryoglobulinemia - Elevated serum creatinine - Hypertension - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 ? | What are the signs and symptoms of Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal lower motor neuron morphology - Amyotrophic lateral sclerosis - Bulbar palsy - Dementia - Muscle cramps - Muscle weakness - Parkinsonism - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Cri du chat syndrome ? | Cri du chat syndrome, also known as 5p- (5p minus) syndrome or cat cry syndrome, is a genetic condition that is caused by the deletion of genetic material on the small arm (the p arm) of chromosome 5. Infants with this condition often have a high-pitched cry that sounds like that of a cat. The disorder is characterized by intellectual disability and delayed development, small head size, low birth weight, weak muscle tone in infancy, and distinctive facial features. While cri du chat syndrome is a genetic condition, most cases are not inherited. | |
What are the symptoms of Cri du chat syndrome ? | What are the signs and symptoms of Cri du chat syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cri du chat syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of chromosome segregation 90% Abnormality of the voice 90% Cognitive impairment 90% Epicanthus 90% Low-set, posteriorly rotated ears 90% Microcephaly 90% Muscular hypotonia 90% Round face 90% Wide nasal bridge 90% Abnormality of the palate 50% Hypertelorism 50% Intrauterine growth retardation 50% Scoliosis 50% Short neck 50% Short palm 50% Short stature 50% Abnormality of bone mineral density 7.5% Finger syndactyly 7.5% Hernia of the abdominal wall 7.5% Joint hypermobility 7.5% Preauricular skin tag 7.5% Recurrent fractures 7.5% Abnormality of cardiovascular system morphology - Abnormality of the kidney - Abnormality of the pinna - Aggressive behavior - Anterior open-bite malocclusion - Anxiety - Autism - Bifid uvula - Cat cry - Cataract - Conspicuously happy disposition - Cryptorchidism - Delayed speech and language development - Diastasis recti - Difficulty walking - Downturned corners of mouth - Echolalia - Facial asymmetry - Facial grimacing - Feeding difficulties in infancy - Functional respiratory abnormality - Gastroesophageal reflux - Growth delay - Hearing impairment - High axial triradius - High palate - Hyperactivity - Hyperacusis - Hypertonia - Hypospadias - Inguinal hernia - Intellectual disability - Long face - Low-set ears - Microretrognathia - Myopia - Narrow face - Neonatal hypotonia - Oppositional defiant disorder - Optic atrophy - Oral cleft - Overfriendliness - Pes planus - Premature graying of hair - Prominent supraorbital ridges - Recurrent infections in infancy and early childhood - Self-mutilation - Short attention span - Short metacarpal - Short metatarsal - Short philtrum - Single transverse palmar crease - Small for gestational age - Sporadic - Stenosis of the external auditory canal - Stereotypic behavior - Strabismus - Syndactyly - Thick lower lip vermilion - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What causes Cri du chat syndrome ? | What causes cri du chat syndrome? Cri du chat syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5. This chromosomal change is written as 5p-. The size of the deletion varies among affected individuals but studies suggest that larger deletions tend to result in more severe intellectual disability and developmental delay than smaller deletions. The signs and symptoms of cri du chat syndrome are probably related to the loss of multiple genes on the short arm of chromosome 5. Researchers believe that the loss of a specific gene, CTNND2, is associated with severe intellectual disability in some people with this condition. They are working to determine how the loss of other genes in this region contributes to the characteristic features of cri du chat syndrome. | |
Is Cri du chat syndrome inherited ? | Is cri du chat syndrome inherited? Most cases of cri du chat syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Most affected individuals do not have a history of the disorder in their family. About 10 percent of people with cri du chat syndrome inherit the chromosome abnormality from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which no genetic material is gained or lost. Balanced translocations usually do not cause any health problems; however, they can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Individuals with cri du chat syndrome who inherit an unbalanced translocation are missing genetic material from the short arm of chromosome 5. This results in the intellectual disability and other health problems characteristic of the disorder. | |
What are the treatments for Cri du chat syndrome ? | How might cri du chat syndrome be treated? While there is no specific treatment available for cri du chat syndrome, early intervention is recommended in the areas of physical therapy (achieving physical and motor milestones such as sitting and standing up), communication (speech therapy, sign language instruction), behavioral modification (for hyperactivity, short attention span, aggression), and learning (special education). Because symptoms may vary from individual to individual, we recommend discussing these options with a health care professional to develop a personalized plan for therapy. | |
What is (are) Tracheobronchopathia osteoplastica ? | Tracheobronchopathia osteoplastica (TO) is a rare condition of the large airways. It is characterized by the presence of multiple growths (nodules) made of bone and cartilage tissue, in the submucosa of the tracheobronchial wall. The nodules protrude into the spaces inside the trachea and bronchi, which can lead to airway obstruction. Affected people may have persisting or recurrent respiratory symptoms, and/or recurrent infections. The cause of TO is not currently known. There is no specific treatment to prevent the formation of nodules. Laser therapy or removal of the nodules may be needed in some cases. | |
What are the symptoms of Tracheobronchopathia osteoplastica ? | What are the signs and symptoms of Tracheobronchopathia osteoplastica? Symptoms of tracheobronchopathia osteoplastica (TO) may be absent or non-specific. Affected people may have various respiratory symptoms such as cough, wheezing, coughing up blood (hemoptysis), and/or recurrent upper airway infections. Stridor and low-pitched wheezing may occur if there is severe airway obstruction. In some cases, obstruction of the lobar bronchi can cause recurrent atelectasis (collapse of the lung) or pneumonia. Nodules seem to remain stable over years, or progress at a very slow rate. It is thought that over 90% of cases are diagnosed incidentally on autopsy. Rapid progression has been reported rarely. The Human Phenotype Ontology provides the following list of signs and symptoms for Tracheobronchopathia osteoplastica. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the skeletal system - Autosomal dominant inheritance - Cough - Dyspnea - Hemoptysis - Hoarse voice - Recurrent pneumonia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What causes Tracheobronchopathia osteoplastica ? | What causes tracheobronchopathia osteoplastica? The underlying cause of tracheobronchopathia osteoplastica (TO) remains unknown. Several theories have been proposed, including chronic airway inflammation, exostosis (formation of new bone), and metaplasia (abnormal cell changes) in the affected tissue. Numerous cases have been reported in association with different conditions including allergic rhinitis. However, no theories have been validated. There is no known genetic susceptibility to the development of TO. | |
Is Tracheobronchopathia osteoplastica inherited ? | Is tracheobronchopathia osteoplastica inherited? There is no known genetic susceptibility to the development of TO, and it typically occurs in people with no known history of the condition in their family. Familial occurrence has been reported only once, in a woman and her daughter. | |
How to diagnose Tracheobronchopathia osteoplastica ? | How is tracheobronchopathia osteoplastica diagnosed? Fiberoptic bronchoscopy is thought to be the best procedure to diagnose tracheobronchopathia osteoplastica (TO). This procedure is done when it is important to see the airways or to get samples of mucus or tissue from the lungs. It involves placing a thin, tube-like instrument through the nose or mouth and down into the lungs. During this procedure a bronchial biopsy is usually performed, but samples are sometimes hard to obtain. TO is usually an incidental finding during fiberoptic bronchoscopy, and is rarely suspected before the procedure is done. | |
What are the treatments for Tracheobronchopathia osteoplastica ? | How might tracheobronchopathia osteoplastica be treated? There is no specific treatment for tracheobronchopathia osteoplastica (TO). Recurrent infections and collapse of the lung are treated conventionally. Inhaled corticosteroids may have some impact on people in early stages of the condition, but whether they may be helpful for people with more advanced disease needs further study. Occasionally, tracheostomy may be needed. Surgical treatment options may be considered when all conservative therapies have been unsuccessful. The long-term outlook (prognosis) for affected people is generally good, but usually depends on the extension and location of the lesions. It has been reported that over 55% of affected people do not have any disease progression following the diagnosis. | |
What are the symptoms of Dihydropyrimidinase deficiency ? | What are the signs and symptoms of Dihydropyrimidinase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Dihydropyrimidinase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal pyramidal signs 5% Abnormal facial shape - Anal atresia - Autosomal recessive inheritance - Delayed speech and language development - Extrapyramidal dyskinesia - Feeding difficulties in infancy - Growth delay - Intellectual disability - Lethargy - Metabolic acidosis - Morphological abnormality of the pyramidal tract - Phenotypic variability - Plagiocephaly - Reduced dihydropyrimidine dehydrogenase activity - Seizures - Short phalanx of finger - Somnolence - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Spinocerebellar ataxia 20 ? | What are the signs and symptoms of Spinocerebellar ataxia 20? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 20. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal pyramidal signs - Adult onset - Autosomal dominant inheritance - Dysarthria - Dysphonia - Gait ataxia - High pitched voice - Hypermetric saccades - Limb ataxia - Nystagmus - Palatal myoclonus - Postural tremor - Slow progression - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Athabaskan brainstem dysgenesis ? | What are the signs and symptoms of Athabaskan brainstem dysgenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Athabaskan brainstem dysgenesis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of brainstem morphology 100% Abnormality of eye movement 90% Abnormality of cerebral artery - Delayed gross motor development - Sensorineural hearing impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Spastic paraplegia 16 ? | What are the signs and symptoms of Spastic paraplegia 16? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 16. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Babinski sign - Facial hypotonia - Hyperreflexia - Hypoplasia of the maxilla - Intellectual disability - Juvenile onset - Low frustration tolerance - Lower limb amyotrophy - Lower limb muscle weakness - Mood swings - Motor aphasia - Restlessness - Short distal phalanx of finger - Shuffling gait - Spastic paraplegia - Strabismus - Urinary bladder sphincter dysfunction - Urinary incontinence - Urinary urgency - Visual impairment - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Scholte syndrome ? | What are the signs and symptoms of Scholte syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Scholte syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of the genital system 90% Blepharophimosis 90% Broad forehead 90% Cognitive impairment 90% Decreased body weight 90% Deeply set eye 90% High forehead 90% Midline defect of the nose 90% Muscular hypotonia 90% Short foot 90% Short palm 90% Short philtrum 90% Skeletal muscle atrophy 90% Thin vermilion border 90% Abnormality of calvarial morphology 50% Abnormality of the antihelix 50% Abnormality of the palate 50% Delayed eruption of teeth 50% Epicanthus 50% Hyperlordosis 50% Joint hypermobility 50% Kyphosis 50% Limitation of joint mobility 50% Neurological speech impairment 50% Patellar aplasia 50% Patellar dislocation 50% Pes cavus 50% Sandal gap 50% Seizures 50% Short nose 50% Toe syndactyly 50% Truncal obesity 50% Upslanted palpebral fissure 50% Wide mouth 50% Abnormal facial shape - Abnormal joint morphology - Autosomal dominant inheritance - Early balding - Hypogonadism - Intellectual disability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Van Den Bosch syndrome ? | What are the signs and symptoms of Van Den Bosch syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Van Den Bosch syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal electroretinogram 90% Abnormality of retinal pigmentation 90% Choroideremia 90% Cognitive impairment 90% Hypohidrosis 90% Myopia 90% Nystagmus 90% Palmoplantar keratoderma 90% Respiratory insufficiency 90% Short stature 90% Sprengel anomaly 90% Visual impairment 90% Abnormality of the skeletal system - Acrokeratosis - Anhidrosis - Intellectual disability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Macular dystrophy, atypical vitelliform ? | What are the signs and symptoms of Macular dystrophy, atypical vitelliform? The Human Phenotype Ontology provides the following list of signs and symptoms for Macular dystrophy, atypical vitelliform. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Reduced visual acuity 5% Visual field defect 5% Visual impairment 5% Autosomal dominant inheritance - Late onset - Macular dystrophy - Vitelliform-like macular lesions - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Dentinogenesis imperfecta ? | Dentinogenesis imperfecta is a condition that results in issues with tooth development, causing the teeth to be translucent and discolored (most often a blue-gray or yellow-brown in color). Individuals with this disorder tend to have teeth that are weaker than normal which leads to increased wear, breakage, and loss of the teeth. This can affect both primary (baby) and permanent teeth. Dentinogenesis imperfecta is caused by mutations in the DSPP gene and is inherited in an autosomal dominant manner. There are three types of dentinogenesis imperfecta. Type I: occurs in people who have osteogenesis imperfecta, a genetic condition in which bones are brittle, causing them to break easily. Type II and type III: usually occur in people without another inherited disorder. Some families with type II also have progressive hearing loss. Type III was first identified in a population in Brandywine, Maryland. Some researchers believe that dentinogenesis imperfecta type II and type III, along with a similar condition called dentin dysplasia type II, are actually just different forms of a single disorder. | |
What causes Dentinogenesis imperfecta ? | What causes dentinogenesis imperfecta? Mutations in the DSPP gene cause dentinogenesis imperfecta. The DSPP gene provides instructions for making three proteins that are essential for normal tooth development. These proteins are involved in the formation of dentin, which is a bone-like substance that makes up the protective middle layer of each tooth. DSPP mutations alter the proteins made from the gene, leading to the production of abnormally soft dentin. Teeth with defective dentin are discolored, weak, and more likely to decay and break. It is unclear how DSPP mutations are related to hearing loss in some families with dentinogenesis imperfecta type II. | |
Is Dentinogenesis imperfecta inherited ? | How do people inherit dentinogenesis imperfecta? Dentinogenesis imperfecta is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. | |
What are the treatments for Dentinogenesis imperfecta ? | How might dentinogenesis imperfecta be treated? The aims of treatment are to remove sources of infection or pain, restore aesthetics and protect posterior teeth from wear. Treatment varies according to the age of the patient, severity of the problem and the presenting complaint. Crowns, caps or other forms of dental care are the most commonly used treatments. Dentures or dental implants may be necessary if the majority of teeth are lost. More detailed information regarding the treatment of dentinogenesis imperfecta can be found by visiting the following web links: https://www.dentistry.unc.edu/dentalprofessionals/resources/defects/di/ http://www.ojrd.com/content/3/1/31 | |
What are the symptoms of Johnston Aarons Schelley syndrome ? | What are the signs and symptoms of Johnston Aarons Schelley syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Johnston Aarons Schelley syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dry skin 90% Hyperkeratosis 90% Hypertonia 90% Limitation of joint mobility 90% Morphological abnormality of the central nervous system 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Jensen syndrome ? | What are the signs and symptoms of Jensen syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Jensen syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Blindness - Cerebral calcification - Dementia - Generalized amyotrophy - Infantile sensorineural hearing impairment - Optic atrophy - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of McDonough syndrome ? | What are the signs and symptoms of McDonough syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for McDonough syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the abdominal wall musculature 90% Cognitive impairment 90% Dental malocclusion 90% Kyphosis 90% Macrotia 90% Prominent supraorbital ridges 90% Scoliosis 90% Short stature 90% Strabismus 90% Synophrys 90% Abnormality of the palate 50% Blepharophimosis 50% Cryptorchidism 50% Decreased body weight 50% Hypertelorism 50% Low-set, posteriorly rotated ears 50% Mandibular prognathia 50% Pectus excavatum 50% Ptosis 50% Short philtrum 50% Single transverse palmar crease 50% Underdeveloped nasal alae 50% Abnormal facial shape - Aortic valve stenosis - Atria septal defect - Autosomal recessive inheritance - Clinodactyly - Diastasis recti - Hypoplastic toenails - Intellectual disability - Kyphoscoliosis - Pectus carinatum - Prominent nose - Pulmonic stenosis - Radial deviation of finger - Sparse hair - Upslanted palpebral fissure - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Congenital ectodermal dysplasia with hearing loss ? | What are the signs and symptoms of Congenital ectodermal dysplasia with hearing loss? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital ectodermal dysplasia with hearing loss. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Camptodactyly of finger 90% Sensorineural hearing impairment 90% Short stature 90% Arachnodactyly 50% Carious teeth 50% Coarse hair 50% Cognitive impairment 50% Hyperkeratosis 50% Kyphosis 50% Scoliosis 50% Autosomal recessive inheritance - Hidrotic ectodermal dysplasia - Joint contracture of the hand - Thoracic scoliosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Gliomatosis cerebri ? | Gliomatosis cerebri is a type of brain cancer. It is a variant form of glioblastoma multiforme. It is characterized by scattered and widespread tumor cells that can cause the cerebrum, cerebellum, or brain stem to enlarge. Signs and symptoms may include personality changes, memory disturbance, headache, hemiparesis, and seizures. Because this tumor is so diffuse it can be challenging to treat and the prognosis for people with gliomatosis cerebri is generally poor. | |
What is (are) Heparin-induced thrombocytopenia ? | Heparin-induced thrombocytopenia (HIT) is an adverse reaction to the drug heparin resulting in an abnormally low amount of platelets (thrombocytopenia). HIT is usually an immune response which typically occurs 4-10 days after exposure to heparin; it can lead to serious complications and be life-threatening. This condition occurs in up to 5% of those who are exposed to heparin. Characteristic signs of HIT are a drop in platelet count of greater than 50% and/or the formation of new blood clots during heparin therapy. The first step of treatment is to discontinue and avoid all heparin products immediately. Often, affected individuals require another medicine to prevent blood clotting (anticoagulants). | |
What is (are) Glutaric acidemia type III ? | Glutaric acidemia type III is a rare metabolic condition characterized by persistent, isolated accumulation or excretion of glutaric acid. No specific phenotype has been described, as symptoms vary and some individuals remain symptom-free. Unlike other types of glutaric acidemia, this type is caused by a peroxisomal rather than a mitochondrial dysfunction. Mutations in the C7ORF10 gene on chromosome 7p14 have been identified in some people with glutaric acidemia type III and the condition follows an autosomal recessive pattern of inheritance. Treatment with riboflavin has been helpful in some patients. | |
What are the symptoms of Glutaric acidemia type III ? | What are the signs and symptoms of Glutaric acidemia type III? The Human Phenotype Ontology provides the following list of signs and symptoms for Glutaric acidemia type III. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Goiter 5% Hyperthyroidism 5% Autosomal recessive inheritance - Diarrhea - Failure to thrive - Glutaric aciduria - Hypertension - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Convulsions benign familial neonatal dominant form ? | What are the signs and symptoms of Convulsions benign familial neonatal dominant form? The Human Phenotype Ontology provides the following list of signs and symptoms for Convulsions benign familial neonatal dominant form. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Generalized tonic-clonic seizures - Hypertonia - Normal interictal EEG - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Pillay syndrome ? | What are the signs and symptoms of Pillay syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pillay syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of bone mineral density 90% Abnormality of the humerus 90% Aplasia/Hypoplasia of the radius 90% Camptodactyly of finger 90% Elbow dislocation 90% Limitation of joint mobility 90% Micromelia 90% Opacification of the corneal stroma 90% Radioulnar synostosis 90% Symphalangism affecting the phalanges of the hand 90% Synostosis of carpal bones 90% Visual impairment 90% Glaucoma 7.5% Megalocornea 7.5% Abnormality of the thorax - Autosomal dominant inheritance - Blindness - Coxa valga - Decreased mobility 3rd-5th fingers - Fibular hypoplasia - Lateral humeral condyle aplasia - Mesomelia - Radial bowing - Radioulnar dislocation - Temporomandibular joint ankylosis - Ulnar deviated club hands - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Cleft palate short stature vertebral anomalies ? | What are the signs and symptoms of Cleft palate short stature vertebral anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleft palate short stature vertebral anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of the metacarpal bones 90% Aganglionic megacolon 90% Brachydactyly syndrome 90% Carious teeth 90% Cleft palate 90% Cognitive impairment 90% Delayed skeletal maturation 90% Epicanthus 90% Genu recurvatum 90% Low-set, posteriorly rotated ears 90% Scoliosis 90% Short neck 90% Short nose 90% Short stature 90% Vertebral segmentation defect 90% Abnormality of bone mineral density 50% Abnormality of the hip bone 50% Abnormality of the ureter 50% Anteverted nares 50% Congenital diaphragmatic hernia 50% Facial asymmetry 50% Joint hypermobility 50% Laryngomalacia 50% Limitation of joint mobility 50% Muscular hypotonia 50% Thin vermilion border 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Spastic paraplegia neuropathy poikiloderma ? | What are the signs and symptoms of Spastic paraplegia neuropathy poikiloderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia neuropathy poikiloderma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelashes 90% Aplasia/Hypoplasia of the eyebrow 90% Aplasia/Hypoplasia of the skin 90% Decreased nerve conduction velocity 90% Hemiplegia/hemiparesis 90% Hyperreflexia 90% Hypertonia 90% Irregular hyperpigmentation 90% Skeletal muscle atrophy 90% Absent eyebrow - Absent eyelashes - Autosomal dominant inheritance - Demyelinating motor neuropathy - Demyelinating sensory neuropathy - Distal amyotrophy - Onion bulb formation - Poikiloderma - Spastic paraplegia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
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