Contexts stringlengths 0 32.3k | Questions stringlengths 14 191 | Answers stringlengths 6 29k ⌀ |
|---|---|---|
What is (are) Osteochondritis dissecans ? | Osteochondritis dissecans is a joint condition that occurs when a piece of cartilage and the thin layer of bone beneath it, separates from the end of the bone. If the piece of cartilage and bone remain close to where they detached, they may not cause any symptoms. However, affected people may experience pain, weakness and/or decreased range of motion in the affected joint if the cartilage and bone travel into the joint space. Although osteochondritis dissecans can affect people of all ages, it is most commonly diagnosed in people between the ages of 10 and 20 years. In most cases, the exact underlying cause is unknown. Rarely, the condition can affect more than one family member (called familial osteochondritis dissecans); in these cases, osteochondritis dissecans is caused by changes (mutations) in the ACAN gene and is inherited in an autosomal dominant manner. Treatment for the condition varies depending on many factors, including the age of the affected person and the severity of the symptoms, but may include rest; casting or splinting; surgery and/or physical therapy. | |
What are the symptoms of Osteochondritis dissecans ? | What are the signs and symptoms of osteochondritis dissecans? The signs and symptoms of osteochondritis dissecans vary from person to person. If the piece of cartilage and bone remain close to where they detached, they may not cause any symptoms. However, affected people may experience the following if the cartilage and bone travel into the joint space: Pain, swelling and/or tenderness Joint popping Joint weakness Decreased range of motion Although osteochondritis dissecans can develop in any joint of the body, the knee, ankle and elbow are most commonly affected. Most people only develop the condition in a single joint. | |
What causes Osteochondritis dissecans ? | What causes osteochondritis dissecans? In most cases, the exact underlying cause of osteochondritis dissecans is not completely understood. Scientists suspect that it may be due to decreased blood flow to the end of the affected bone, which may occur when repetitive episodes of minor injury and/or stress damage a bone overtime. In some families, osteochondritis dissecans is caused by changes (mutations) in the ACAN gene. In these cases, which are referred to as familial osteochondritis dissecans, the condition generally affects multiple joints and is also associated with short stature and early-onset osteoarthritis. The ACAN gene encodes a protein that is important to the structure of cartilage. Mutations in this gene weaken cartilage, which leads to the various signs and symptoms of familial osteochondritis disssecans. | |
How to diagnose Osteochondritis dissecans ? | How is osteochondritis dissecans diagnosed? A diagnosis of osteochondritis dissecans is usually suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. These test may include x-rays, magnetic resonance imaging (MRI) and/or computed tomography (CT scan). For more information about the diagnosis of osteochondritis dissecans, please click here. | |
What are the treatments for Osteochondritis dissecans ? | How might osteochondritis dissecans be treated? The primary aim of treatment for osteochondritis dissecans is to restore normal function of the affected joint, relieve pain and prevent osteoarthritis. Treatment for the condition varies depending on many factors including the age of the affected person and the severity of the symptoms. In children and young teens, osteochondritis dissecans often heals overtime without surgical treatment. These cases are often managed with rest and in some cases, crutches and/or splinting to relieve pain and swelling. If non-surgical treatments are not successful or the case is particularly severe (i.e. the cartilage and bone are moving around within the joint space), surgery may be recommended. Following surgery, physical therapy is often necessary to improve the strength and range of motion of the affected joint. | |
What are the symptoms of Pterygium colli mental retardation digital anomalies ? | What are the signs and symptoms of Pterygium colli mental retardation digital anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Pterygium colli mental retardation digital 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) Abnormality of calvarial morphology 90% Abnormality of the distal phalanx of finger 90% Abnormality of the pinna 90% Aplasia/Hypoplasia of the thumb 90% Cognitive impairment 90% Epicanthus 90% Highly arched eyebrow 90% Hypertelorism 90% Joint hypermobility 90% Low-set, posteriorly rotated ears 90% Lymphedema 90% Muscular hypotonia 90% Narrow forehead 90% Proximal placement of thumb 90% Ptosis 90% Upslanted palpebral fissure 90% Webbed neck 90% Brachycephaly - Broad distal phalanx of finger - Edema of the dorsum of feet - Edema of the dorsum of hands - Epicanthus inversus - Intellectual disability - Low-set ears - Posteriorly rotated ears - Protruding ear - 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) Chorea-acanthocytosis ? | Chorea-acanthocytosis is one of a group of conditions called the neuroacanthocytoses that involve neurological problems and abnormal red blood cells. The condition is characterized by involuntary jerking movements (chorea), abnormal star-shaped red blood cells (acanthocytosis), and involuntary tensing of various muscles (dystonia), such as those in the limbs, face, mouth, tongue, and throat. Chorea-acanthocytosis is caused by mutations in the VPS13A gene and is inherited in an autosomal recessive manner. There are currently no treatments to prevent or slow the progression of chorea-acanthocytosis; treatment is symptomatic and supportive. | |
What are the symptoms of Chorea-acanthocytosis ? | What are the signs and symptoms of Chorea-acanthocytosis? Chorea-acanthocytosis affects movement in many parts of the body. Chorea refers to the involuntary jerking movements made by people with this disorder. People with this condition also have abnormal star-shaped red blood cells (acanthocytosis). Another common feature of chorea-acanthocytosis is involuntary tensing of various muscles (dystonia), such as those in the limbs, face, mouth, tongue, and throat. These muscle twitches can cause vocal tics (such as grunting), involuntary belching, and limb spasms. Eating can also be impaired as tongue and throat twitches can interfere with chewing and swallowing food. People with chorea-acanthocytosis may uncontrollably bite their tongue, lips, and inside of the mouth. Nearly half of all people with chorea-acanthocytosis have seizures. Individuals with chorea-acanthocytosis may develop difficulty processing, learning, and remembering information (cognitive impairment). They may also have reduced sensation and weakness in their arms and legs (peripheral neuropathy) and muscle weakness (myopathy). Impaired muscle and nerve functioning commonly cause speech difficulties, and can lead to an inability to speak. Behavioral changes are also a common feature of chorea-acanthocytosis and may be the first sign of this condition. These behavioral changes may include changes in personality, obsessive-compulsive disorder (OCD), lack of self-restraint, and the inability to take care of oneself. The signs and symptoms of chorea-acanthocytosis usually begin in early to mid-adulthood. The movement problems of this condition worsen with age. Loss of cells (atrophy) in certain brain regions is the major cause of the neurological problems seen in people with chorea-acanthocytosis. The Human Phenotype Ontology provides the following list of signs and symptoms for Chorea-acanthocytosis. 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 erythrocytes 90% Incoordination 90% Muscular hypotonia 90% Neurological speech impairment 90% Pallor 90% Peripheral neuropathy 90% Abnormality of coagulation 50% Abnormality of the oral cavity 50% Abnormality of urine homeostasis 50% Attention deficit hyperactivity disorder 50% Cerebral cortical atrophy 50% Chorea 50% Developmental regression 50% EMG abnormality 50% Gait disturbance 50% Memory impairment 50% Myopathy 50% Seizures 50% Skeletal muscle atrophy 50% Tremor 50% Ventriculomegaly 50% Abdominal pain 7.5% Abnormality of the thyroid gland 7.5% Acute hepatic failure 7.5% Ascites 7.5% Cataract 7.5% Dementia 7.5% Elevated hepatic transaminases 7.5% Hepatomegaly 7.5% Hypertrophic cardiomyopathy 7.5% Lymphadenopathy 7.5% Malabsorption 7.5% Nausea and vomiting 7.5% Nystagmus 7.5% Recurrent respiratory infections 7.5% Self-injurious behavior 7.5% Short stature 7.5% Sleep disturbance 7.5% Splenomegaly 7.5% Vasculitis 7.5% Weight loss 7.5% Acanthocytosis - Aggressive behavior - Anxiety - Areflexia - Autosomal recessive inheritance - Caudate atrophy - Disinhibition - Drooling - Dysarthria - Dysphagia - Dystonia - Elevated serum creatine phosphokinase - Hyporeflexia - Limb muscle weakness - Mood changes - Orofacial dyskinesia - Parkinsonism - Personality changes - Pes cavus - Progressive - Progressive choreoathetosis - Psychosis - Self-mutilation of tongue and lips due to involuntary movements - Sensory neuropathy - Tics - 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. | |
Is Chorea-acanthocytosis inherited ? | How do people inherit chorea-acanthocytosis? Chorea-acanthocytosis is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | |
What are the treatments for Chorea-acanthocytosis ? | How is chorea-acanthocytosis treated? There are currently no treatments to prevent or slow the progression of chorea-acanthocytosis; treatment is symptomatic and supportive. Management may include: botulinum toxin for decreasing the oro-facio-lingual dystonia; feeding assistance; speech therapy; mechanical protective devices; splints for foot drop; phenytoin, clobazam, and valproate for seizure management; antidepressant or antipsychotic medications; dopamine antagonists such as atypical neuroleptics or tetrabenazine; and standard treatment for cardiomyopathy. Surveillance includes monitoring of nutritional status and adaptation of diet to assure adequate caloric intake, cardiac evaluations every five years, and EEG every third year. | |
What is (are) Hereditary diffuse leukoencephalopathy with spheroids ? | Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a neurological condition characterized by changes to certain areas of the brain. A hallmark of HDLS is leukoencephalopathy, which is damage to a type of brain tissue called white matter. Another common finding is axon damage due to swellings called spheroids. Damage to myelin and axons is thought to contribute to many of the neurological signs and symptoms seen in people with this condition, including the personality changes, loss of memory, changes in motor skills and dementia. HDLS is caused by mutations in the CSF1R gene. It is inherited in an autosomal dominant pattern. | |
What are the symptoms of Hereditary diffuse leukoencephalopathy with spheroids ? | What are the signs and symptoms of Hereditary diffuse leukoencephalopathy with spheroids? HDLS is characterized by leukoencephalopathy, which is damage to a type of brain tissue called white matter (made up of nerve fibers (axons) covered by myelin). Also common in HDLS are swellings called spheroids in the axons of the brain, which are a sign of axon damage. This damage is thought to contribute to the symptoms see in this condition, including personality changes (including a loss of social inhibitions and depression which are among the earliest symptoms of HDLS), memory loss and loss of executive function (the ability to plan and implement actions and develop problem-solving strategies which impairs skills such as impulse control, self-monitoring, and focusing attention appropriately). Some people with HDLS have mild seizures early in the disease and may experience a severe decline in thinking and reasoning abilities (dementia) as the disease progresses. Over time, motor skills are affected, and people with HDLS may have difficulty walking. Many develop a pattern of movement abnormalities known as parkinsonism, which includes unusually slow movement (bradykinesia), involuntary trembling (tremor), and muscle stiffness (rigidity). The pattern of cognitive and motor problems are variable, even among individuals in the same family. Over time, almost all affected individuals become unable to walk, speak, and care for themselves. The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary diffuse leukoencephalopathy with spheroids. 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 - Apraxia - Autosomal dominant inheritance - Bradykinesia - CNS demyelination - Depression - Frontal lobe dementia - Gliosis - Hyperreflexia - Leukoencephalopathy - Memory impairment - Mutism - Neuronal loss in central nervous system - Postural instability - Rapidly progressive - Rigidity - Shuffling gait - Spasticity - 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 Hereditary diffuse leukoencephalopathy with spheroids ? | What causes hereditary diffuse leukoencephalopathy with spheroids (HDLS)? HDLS is caused by mutations in the CSF1R gene. This gene provides instructions for making a protein called colony stimulating factor 1 receptor (CSF-1 receptor), which is found in the outer membrane of certain types of cells. The CSF-1 receptor triggers signaling pathways that control many important cellular processes, such as cell growth and division (proliferation) and maturation of the cell to take on defined functions (differentiation). Mutations in the CSF1R gene lead to a altered CSF-1 receptor protein which is unable to stimulate cell signaling pathways. Exactly how these gene mutations cause the signs and symptoms of HDLS is unknown. | |
Is Hereditary diffuse leukoencephalopathy with spheroids inherited ? | How is hereditary diffuse leukoencephalopathy with spheroids (HDLS) inherited? HDLS 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 inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. | |
What is (are) Liposarcoma ? | Liposarcoma is a tumor that arises from fat tissue. This tumor often occurs in the thigh, behind the knee, or in the abdomen, but it can be found in other parts of the body. Because a liposarcoma may grow into surrounding tissues or organs, it is considered a malignant tumor. | |
What are the treatments for Liposarcoma ? | How might liposarcoma be treated? The treatment for liposarcoma depends on the type, size, and location of the tumor. Surgery to remove the tumor is often the first treatment. When the tumor is in the abdomen, it may be difficult to remove completely, especially if the tumor is growing near important organs that cannot be removed. If the entire tumor cannot be removed during surgery, radiation therapy may be used after surgery to kill any cancer cells that remain to reduce the chance of the tumor coming back (a recurrence). Chemotherapy is another treatment that can kill remaining cancer cells following surgery, though it is not usually used to treat low-grade sarcomas. Sometimes radiation therapy or chemotherapy may be done prior to surgery to shrink the tumor; this may increase the chance of removing the whole tumor during surgery while limiting the impact to other organs. | |
What is (are) Mercury poisoning ? | Mercury poisoning is a condition that occurs in people who are exposed to toxic levels of the element, mercury. There are three different forms of mercury that can cause health problems: Elemental mercury (also known as liquid mercury or quicksilver) can be found in glass thermometers, electrical switches, dental fillings and fluorescent light bulbs. This form of mercury is generally only harmful when small droplets become airborne and are inhaled. If this occurs, signs and symptoms of poisoning may include metallic taste, vomiting, difficulty breathing, coughing, and/or swollen, bleeding gums. In severe cases, long-term brain damage, permanent lung damage and even death may occur. Inorganic mercury is found in batteries, chemistry labs, and some disinfectants. This form of mercury is harmful when swallowed. Signs and symptoms of inorganic mercury poisoning vary based on the amount consumed, but may include burning in the stomach and throat; vomiting; and/or bloody diarrhea. Inorganic mercury can also affect the kidneys and brain if it enters the blood stream. Organic mercury can be found in fish. Some organisms convert fumes from burning coal into organic mercury. This form of mercury is harmful if inhaled, eaten, or placed on the skin for long periods of time. Long-term exposure to organic mercury may result in skin numbness or pain; tremor; inability to walk well; blindness; double vision; memory problems; seizures; or even death. Treatment is generally supportive and based on the signs and symptoms present in each person. Medications called chelators, which remove mercury and heavy metals from the body, are generally prescribed. | |
What are the symptoms of Microcephaly, corpus callosum dysgenesis and cleft lip-palate ? | What are the signs and symptoms of Microcephaly, corpus callosum dysgenesis and cleft lip-palate? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly, corpus callosum dysgenesis and cleft lip-palate. 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 - Cleft palate - Cleft upper lip - Hypoplasia of the corpus callosum - Microcephaly - Preaxial hand polydactyly - Proptosis - Seizures - 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) Wandering spleen ? | Wandering spleen is a rare condition that occurs when the spleen lacks one or more of the ligments that hold the spleen in its normal position in the upper left abdomen. If a person is born with this condition it is referred to as congenital wandering spleen. The condition is not hereditary. Acquired wandering spleen may occur during adulthood due to injuries or other underlying conditions that may weaken the ligaments that hold the spleen. Symptoms of wandering spleen may include englargement of the spleen (splenomegaly), abdominal pain, intestinal obstruction, nausea, vomiting, fever, and a lump in the abdomen or the pelvis. Some individuals with this condition do not have symptoms. Treatment for this condition involes removal of the spleen (splenectomy). | |
What are the treatments for Wandering spleen ? | How might wandering spleen be treated? Because wandering spleen can cause life-threatening complications (such as splenic infarction, portal hypertension, and hemorrhage), surgery to remove the spleen is the preferred treatment method for patients. Laparoscopic splenectomy is the typical method used for spleen removal. Splenopexy (surgically fixing the floating spleen) is associated with a high risk of recurrence and complications and is not the preferred treatment choice. | |
What is (are) Metachromatic leukodystrophy ? | Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin. Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes. | |
What are the symptoms of Metachromatic leukodystrophy ? | What are the signs and symptoms of Metachromatic leukodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Metachromatic leukodystrophy. 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) Behavioral abnormality 90% Cognitive impairment 90% Decreased nerve conduction velocity 90% Developmental regression 90% Gait disturbance 90% Genu recurvatum 90% Incoordination 90% Muscle weakness 90% Neurological speech impairment 90% Peripheral neuropathy 90% Reduced consciousness/confusion 90% Seizures 90% Amaurosis fugax 50% Hyperreflexia 50% Hypertonia 50% Limitation of joint mobility 50% Muscular hypotonia 50% Nystagmus 50% Optic atrophy 50% Aganglionic megacolon 7.5% Ataxia - Autosomal recessive inheritance - Babinski sign - Bulbar palsy - Cholecystitis - Chorea - Delusions - Dysarthria - Dystonia - EMG: neuropathic changes - Emotional lability - Gallbladder dysfunction - Hallucinations - Hyporeflexia - Increased CSF protein - Intellectual disability - Loss of speech - Mental deterioration - Peripheral demyelination - Progressive peripheral neuropathy - Spastic tetraplegia - Tetraplegia - Urinary incontinence - 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. | |
Is Metachromatic leukodystrophy inherited ? | How is metachromatic leukodystrophy inherited? Metachromatic leukodystrophy is inherited in an autosomal recessive manner. This means that both copies of the disease-causing gene in each cell must have a mutation for an individual to be affected. Individuals inherit two copies of each gene - one copy from each parent. Typically, an individual is affected because they inherited a mutated copy of the gene from each parent. Individuals with one mutated copy of the gene (such as an unaffected parent of an affected individual) are referred to as carriers; carriers typically do not have any signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance 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 Metachromatic leukodystrophy ? | Who might consider genetic carrier testing for a family history of metachromatic leukodystrophy? If someone has a family history of metachromatic leukodystrophy (MLD) or someone is known to be a carrier for MLD, individuals who are biologically related to the affected individual or carrier are at risk to be a carrier. Generally speaking, the more closely related an individual is to the affected individual or carrier, the greater the chance for that person to be a carrier. Prior to genetic testing, the chance to be a carrier for some biological relatives of an affected individual are as follows: Parent of affected individual: assumed to be 100% (called an obligate carrier) Unaffected sibling of affected individual: 2 in 3 (~66.6%) Aunt or uncle of affected individual: 1 in 2 (50%) First cousin of affected individual: 1 in 4 (25%) If someone has carrier testing and is found to be negative (not a carrier), that person's children are typically assumed to be negative also. More information about the use of genetic carrier testing is available on GeneTests' Web site and can be viewed by clicking here. Individuals who are interested in learning about genetic testing and about their specific risk to be a carrier should speak with a genetics professional. | |
What are the symptoms of Lung agenesis ? | What are the signs and symptoms of Lung agenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Lung agenesis. 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) Respiratory insufficiency 90% Abnormal lung lobation 50% Abnormality of the aorta 50% Anomalous pulmonary venous return 50% Aplasia/Hypoplasia of the lungs 50% Atria septal defect 50% Patent ductus arteriosus 50% Abnormality of the aortic valve 7.5% Abnormality of the helix 7.5% Abnormality of the ribs 7.5% Abnormality of the tricuspid valve 7.5% Aplasia/Hypoplasia of the thumb 7.5% Complete atrioventricular canal defect 7.5% Congenital diaphragmatic hernia 7.5% Preaxial hand polydactyly 7.5% Proximal placement of thumb 7.5% Seizures 7.5% Short distal phalanx of finger 7.5% Single transverse palmar crease 7.5% Spina bifida 7.5% Triphalangeal thumb 7.5% Ventriculomegaly 7.5% Vertebral segmentation defect 7.5% Abnormality of the cardiac septa - Autosomal recessive inheritance - Bilateral lung agenesis - Coarctation of aorta - Congenital onset - Neonatal death - Tracheal atresia - 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) Secondary adrenal insufficiency ? | Adrenal insufficiency is an endocrine disorder that occurs when the adrenal glands do not produce enough of certain hormones. Secondary adrenal insufficiency occurs when the pituitary gland (a pea-sized gland at the base of the brain) fails to produce enough adrenocorticotropin (ACTH), a hormone that stimulates the adrenal glands to produce the hormone cortisol. The lack of these hormones in the body can be caused by reduction or cessation of corticosteroid medication, the surgical removal of pituitary tumors, or changes in the pituitary gland. Symptoms of secondary adrenal insufficiency may include severe fatigue, loss of appetite, weight loss, nausea, vomiting, diarrhea, muscle weakness, irritability, and depression. Treatment includes replacing the hormones that the adrenal glands are not making. The dose of each medication is adjusted to meet the needs of each affected individual. | |
What is (are) Epidermolysis bullosa ? | Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa: Dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler Syndrome Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. Most types of EB are inherited. The inheritance pattern may be autosomal dominant or autosomal recessive. Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool. | |
Is Epidermolysis bullosa inherited ? | How is epidermolysis bullosa inherited? Inherited epidermolysis bullosa (EB) may follow either an autosomal dominant or autosomal recessive inheritance pattern, depending on the type and subtype of inherited EB in the affected person. Epidermolysis bullosa simplex (the most common type of EB) is mainly autosomal dominant, except for a few rare autosomal recessive subtypes. Dystrophic epidermolysis bullosa (DEB) can be inherited in an autosomal dominant or autosomal recessive manner, depending on the subtype present. However, dominant DEB is the second most common major type of EB. Junctional epidermolysis bullosa is autosomal recessive, although one article stated that an autosomal dominant form has recently been reported. Kindler syndrome is only inherited in an autosomal recessive manner. A condition is autosomal dominant if having only one changed (mutated) copy of the responsible gene in each cell is enough to cause symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated copy of the gene from the affected parent. Many people with an autosomal dominant form of EB have an affected parent, but in some cases a mutation in the responsible gene occurs for the first time in a person with no family history of EB (called a de novo mutation). A person with a de novo mutation still has a 50% chance to pass the mutation on to each of his/her children. In autosomal recessive inheritance, a person must have a mutation in both copies of the responsible gene in each cell to be affected. Typically, an affected person inherits one changed (mutated) copy of the responsible gene from each parent, who are referred to as carriers. Carriers usually do not have symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to be affected, a 50% (1 in 2) risk to be an unaffected carrier like each parent, and a 25% risk to not be a carrier and not be affected. Epidermolysis bullosa acquisita (acquired EB) is a rare autoimmune disorder and is not inherited. | |
What are the treatments for Epidermolysis bullosa ? | How might infections in individuals with epidermolysis bullosa be treated? The chance of contracting a skin infection can be reduced by good nutrition, which builds the bodys defenses and promotes healing, and by careful skin care with clean hands and use of sterile materials. For added protection, a doctor may recommend antibiotic ointments and soaks. However, even in the presence of good care, it is possible for infection to develop. Signs of infection are redness and heat around an open area of skin, pus or a yellow drainage, excessive crusting on the wound surface, a red line or streak under the skin that spreads away from the blistered area, a wound that does not heal, and/or fever or chills. A doctor may prescribe a specific soaking solution, an antibiotic ointment, or an oral antibiotic to reduce the growth of bacteria. Wounds that are not healing may be treated by a special wound covering or biologically developed skin. More details about treatment, wound care and infection control can be obtained from the eMedicine and DEBRA web sites. | |
What is (are) Niemann-Pick disease type A ? | Niemann-Pick disease is an inherited condition involving lipid metabolism, which is the breakdown, transport, and use of fats and cholesterol in the body. In people with this condition, abnormal lipid metabolism causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain. Niemann-Pick disease type A appears during infancy and is characterized by an enlarged liver and spleen (hepatosplenomegaly), failure to gain weight and grow at the expected rate (failure to thrive), and progressive deterioration of the nervous system. Due to the involvement of the nervous system, Niemann-Pick disease type A is also known as the neurological type. There is currently no effective treatment for this condition and those who are affected generally do not survive past early childhood. Niemann-Pick disease type A is caused by mutations in the SMPD1 gene. It is inherited in an autosomal recessive pattern. | |
What are the symptoms of Niemann-Pick disease type A ? | What are the signs and symptoms of Niemann-Pick disease type A? The Human Phenotype Ontology provides the following list of signs and symptoms for Niemann-Pick disease type A. 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) Cherry red spot of the macula 50% Athetosis - Autosomal recessive inheritance - Bone-marrow foam cells - Constipation - Diffuse reticular or finely nodular infiltrations - Failure to thrive - Feeding difficulties in infancy - Foam cells with lamellar inclusion bodies - Hepatomegaly - Hyporeflexia - Infantile onset - Intellectual disability - Lymphadenopathy - Microcytic anemia - Muscle weakness - Muscular hypotonia - Osteoporosis - Protuberant abdomen - Recurrent respiratory infections - Rigidity - Sea-blue histiocytosis - Short stature - Spasticity - Splenomegaly - Vomiting - Xanthomatosis - 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 Niemann-Pick disease type A ? | How might Niemann-Pick disease type A be treated? There is no specific treatment for this disease. Supportive care from the following specialists may be helpful for managing the symptoms: A pulmonologist for respiratory problems A cardiologist for heart problems Liver and spleen specialists Nutritionists Physical therapists A gastroenterologist Learning specialists You can learn more about ongoing research efforts to better understand the natural history of this condition and identify treatment options in the Research section of our web page. | |
What are the symptoms of Congenital lipoid adrenal hyperplasia ? | What are the signs and symptoms of Congenital lipoid adrenal hyperplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital lipoid adrenal hyperplasia. 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) Adrenogenital syndrome - Autosomal recessive inheritance - Congenital adrenal hyperplasia - 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 is (are) Pseudopseudohypoparathyroidism ? | Pseudopseudohypoparathyroidism (PPHP) is an inherited condition that causes short stature, round face, and short hand bones. PPHP causes joints and other soft tissues in the body to harden. It also affects how bones are formed. As a result, PPHP can cause bone, joint, and nerve damage, and this damage can cause lasting pain. Some people with PPHP (10%) also have learning disability. PHPP is caused by mutations in the GNAS gene and is inherited in an autosomal dominant fashion. This condition is usually inherited from the father (genomic imprinting). PPHP is genetically related to pseudohypoparathyroidism type Ia (PHP-1a). Signs and symptoms are similar, however people with PPHP do not show resistance to parathyroid hormone while people with PHP-1a do. Obesity is characteristic for PHP-1a and may be severe, while obesity is less prominent and may be absent among people with PPHP. Both PHP-1a and PPHP are caused by mutations that affect the function of the GNAS gene. But people who inherit the mutation from their mother develop PHP-1a; whereas those who inherit the mutation from their father develop PPHP. | |
What are the symptoms of Pseudopseudohypoparathyroidism ? | What are the signs and symptoms of Pseudopseudohypoparathyroidism? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudopseudohypoparathyroidism. 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) Intellectual disability 5% Autosomal dominant inheritance - Brachydactyly syndrome - Cataract - Cognitive impairment - Delayed eruption of teeth - Depressed nasal bridge - Full cheeks - Hypoplasia of dental enamel - Nystagmus - Obesity - Osteoporosis - Phenotypic variability - Pseudohypoparathyroidism - Round face - Short metacarpal - Short metatarsal - Short neck - Short stature - 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) Majeed syndrome ? | Majeed syndrome is characterized by recurrent episodes of fever and inflammation in the bones and skin. The two main features of this condition are chronic recurrent multifocal osteomyelitis (CRMO) and congenital dyserythropoietic anemia (CDA). CRMO causes recurrent episodes of pain and joint swelling which can lead to complications such as slow growth and the development of joint deformities called contractures. CDA involves a shortage of red blood cells which can lead to fatigue (tiredness), weakness, pale skin, and shortness of breath. Most people with Majeed syndrome also develop inflammatory disorders of the skin, most often a condition known as Sweet syndrome. Majeed syndrome results from mutations in the LPIN2 gene. This condition is inherited in an autosomal recessive pattern. | |
What are the symptoms of Majeed syndrome ? | What are the signs and symptoms of Majeed syndrome? Majeed syndrome is characterized by recurrent episodes of fever and inflammation in the bones and skin. There are two main features of Majeed syndrome: Chronic recurrent multifocal osteomyelitis (CRMO), an inflammatory bone condition which causes recurrent episodes of pain and joint swelling. These symptoms begin in infancy or early childhood and typically persist into adulthood, although there may be short periods of improvement. CRMO can lead to complications such as slow growth and the development of joint deformities called contractures, which restrict the movement of certain joints. Congenital dyserythropoietic anemia is a blood disorder which involve a shortage of red blood cells. Without enough of these cells, the blood cannot carry an adequate supply of oxygen to the body's tissues. The resulting symptoms can include tiredness (fatigue), weakness, pale skin, and shortness of breath. Complications of congenital dyserythropoietic anemia can range from mild to severe. Most people with Majeed syndrome also develop inflammatory disorders of the skin, most often a condition known as Sweet syndrome. The symptoms of Sweet syndrome include fever and the development of painful bumps or blisters on the face, neck, back, and arms. The Human Phenotype Ontology provides the following list of signs and symptoms for Majeed 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 temperature regulation 90% Abnormality of the metaphyses 90% Arthralgia 90% Bone pain 90% Microcytic anemia 90% Osteomyelitis 90% Pustule 90% Skin rash 90% Weight loss 90% Acne 50% Arthritis 50% Edema 50% Hepatomegaly 50% Hyperostosis 50% Leukocytosis 50% Migraine 50% Myalgia 50% Splenomegaly 50% Abnormal blistering of the skin 7.5% Abnormality of bone mineral density 7.5% Flexion contracture 7.5% Glomerulopathy 7.5% Hematuria 7.5% Inflammatory abnormality of the eye 7.5% Malabsorption 7.5% Proteinuria 7.5% Pulmonary infiltrates 7.5% Recurrent fractures 7.5% Vasculitis 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 causes Majeed syndrome ? | What causes Majeed syndrome? Majeed syndrome is caused by mutations in the LPIN2 gene. This gene provides instructions for making a protein called lipin-2. Researchers believe that this protein may play a role in the processing of fats. It may also be involved in controlling inflammation and play a role in cell division. Mutations in the LPIN2 gene alter the structure and function of lipin-2. It is unclear how these genetic changes lead to bone disease, anemia, and inflammation of the skin in people with Majeed syndrome. | |
Is Majeed syndrome inherited ? | How is Majeed syndrome inherited? Majeed syndrome is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene. Although carriers typically do not show signs and symptoms of the condition, some parents of children with Majeed syndrome have had an inflammatory skin disorder called psoriasis. | |
What are the treatments for Majeed syndrome ? | How might Majeed syndrome be treated? Treatment is based upon the symptoms present. Chronic recurrent multifocal osteomyelitis (CRMO) is treated with nonsteroidal anti-inflammatory drugs (NSAIDs) and physical therapy to avoid disuse atrophy of muscles and contractures. If CRMO does not respond to NSAIDs, corticosteroids can be used short term to control CRMO and skin manifestations. Resolution of bone inflammation has been reported in at least two children who were treated with an IL-1 inhibitor. Congenital dyserythropoietic anemia (CDA) may be treated with red blood cell transfusion. | |
What are the symptoms of Madokoro Ohdo Sonoda syndrome ? | What are the signs and symptoms of Madokoro Ohdo Sonoda syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Madokoro Ohdo Sonoda 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 metabolism/homeostasis - Absent lacrimal punctum - Autosomal recessive inheritance - Bulbous nose - Constipation - Cryptorchidism - Downturned corners of mouth - Ectodermal dysplasia - High, narrow palate - Hypoplastic lacrimal duct - Hypotrichosis - Intellectual disability - Preauricular pit - Sacral dimple - Tetraamelia - Umbilical hernia - Upslanted palpebral fissure - Wide mouth - 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) Potocki-Shaffer syndrome ? | Potocki-Shaffer syndrome is a contiguous gene deletion syndrome associated with deletions in a specific region of chromosome 11 (11p11.2). The characteristic features of Potocki-Shaffer syndrome include openings in the two bones that form the top and sides of the skull (enlarged parietal foramina), multiple benign bone tumors called exostoses, intellectual disability, developmental delay, a distinctive facial appearance, autism and problems with vision and hearing. In some cases, individuals with the syndrome may have a defect in the heart, kidneys, or urinary tract. The features of Potocki-Shaffer syndrome result from the loss of several genes on the short (p) arm of chromosome 11. In particular, the deletion of a gene called ALX4 causes enlarged parietal foramina, while the loss of another gene, EXT2, causes the multiple exostoses. Another condition called WAGR syndrome is caused by a deletion of genetic material in the p arm of chromosome 11, specifically at position 11p13. Occasionally, a deletion is large enough to include the 11p11.2 and 11p13 regions. Individuals with such a deletion have signs and symptoms of both Potocki-Shaffer syndrome and WAGR syndrome. A referral to an early childhood intervention and developmental-behavioral specialist at the time of diagnosis and to have an evaluation for vision and hearing problems, as well as a full skeletal survey at the time of diagnosis or by age 3 years, whichever is later, is recommended. | |
What are the symptoms of Potocki-Shaffer syndrome ? | What are the signs and symptoms of Potocki-Shaffer syndrome? The signs and symptoms can vary depending on the area and amount deleted. Some individuals with the syndrome have few issues and lead a normal life while others are very severely affected. The following signs and symptoms may be present: Enlarged parietal foramina Multiple exostoses Intellectual disability Developmental delay Failure to thrive Autism Behavioral problems Deafness Myopia (nearsightedness) Nystagmus Cataract Strabismus Aniridia Distinct facial features (microcephaly, epicanthus, sparse eyebrows, prominent nose, small mandible) Kidney problems MedlinePlus has information pages on some of these signs and symptoms or can direct to you other trusted websites that offer information. If you would like to read more, visit the link and enter the sign and symptom about which you would like to learn. The Human Phenotype Ontology provides the following list of signs and symptoms for Potocki-Shaffer 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) Cognitive impairment 90% Decreased skull ossification 90% Exostoses 90% Craniofacial dysostosis 33% Cutaneous syndactyly between fingers 2 and 5 5% Multiple exostoses 10/10 Downturned corners of mouth 8/9 Micropenis 5/6 Single transverse palmar crease 5/6 Parietal foramina 9/11 Intellectual disability 7/10 Brachycephaly 6/9 Short philtrum 6/9 Sparse lateral eyebrow 6/9 Brachydactyly syndrome 5/8 Muscular hypotonia 5/9 Wormian bones 3/6 Epicanthus 4/9 Telecanthus 4/9 Seizures 2/11 Broad forehead - Contiguous gene syndrome - High forehead - Short nose - Turricephaly - Underdeveloped nasal alae - Wide nasal bridge - 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 Potocki-Shaffer syndrome ? | How might Potocki-Shaffer be treated? The treatment depends on the signs and symptoms present in the affected individual. The following treatment options or recommendations might be offered: Treatment of Wilms tumor, which may include surgery to remove the kidney, radiation therapy and chemotherapy. Treatment of aniridia is aimed at maintaining vision. Glaucoma or cataracts can be treated with medication or surgery. Contact lenses should be avoided because they can damage the cornea. In cases of abnormalities in the testes or ovaries, surgery may be needed to remove them or to prevent cancer (gonadoblastoma). After they testes or ovaries are removed hormone replacement is needed. Children with undescended testicles (cryptorchidism) may also need surgery. In a study with 6 patients and a review of 31 previously reported cases of Potocki-Shaffer syndrome, the researchers made several recommendations for the care of children with the syndrome. These include: Referral to early childhood intervention and a developmental-behavioral specialist at the time of diagnosis; A full skeletal survey at diagnosis or by age three; Screening for strabismus and nystagmus by the pediatrician (at every well-child examination), and referral to a pediatric ophthalmologist at diagnosis or by age six months; Hearing loss evaluations in infants with the syndrome and after that at three months of age; audiogram at age one year and annually thereafter; Fluorescence in situ hybridization (FISH) studies and genetic counseling should be offered to the parents of a child with Potocki-Shaffer syndrome; Referral to a specialist in development and behavior at the time of diagnosis for vision therapy, physical, occupational and speech therapy; Abdominal and kidney ultrasound due to the possible risk of developing a Wilms' tumor, especially in those individuals who have a deletion in the 11p13 region; Cardiac evaluation to detect any heart abnormalities; Thyroid hormone level measurements to detect the hypothyroidism; and MRI scans are recommended if the individual has seizures, microcephaly, or global developmental delay. Some individuals with Potocki-Shaffer syndrome, WAGR syndrome, and renal insufficiency may be treated with dialysis or kidney transplant. | |
What is (are) Multisystemic smooth muscle dysfunction syndrome ? | Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the digestion of food (hypoperistalsis). A certain mutation in the ACTA2 gene has been shown to cause this condition in some individuals. | |
What are the symptoms of Multisystemic smooth muscle dysfunction syndrome ? | What are the signs and symptoms of Multisystemic smooth muscle dysfunction syndrome? Symptoms for people with multisystemic smooth muscle dysfunction syndrome can include the following : Congenital mydriasis (fixed dilated pupils) Patent Ductus Arteriosus Vascular problems including aneurysms Gastrintestinal problems Weak bladder Lung disease White matter abnormalities Changes consistent with MoyaMoya disease The Human Phenotype Ontology provides the following list of signs and symptoms for Multisystemic smooth muscle dysfunction 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) Autosomal dominant inheritance - Cerebral aneurysm - Cryptorchidism - Hyperperistalsis - Intestinal malrotation - Mydriasis - Patent ductus arteriosus - Pulmonary hypertension - Retinal infarction - Tachypnea - Thoracic aortic aneurysm - 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) Autosomal dominant neuronal ceroid lipofuscinosis 4B ? | Autosomal dominant neuronal ceroid lipofuscinosis 4B is a form of adult neuronal ceroid lipofuscinosis, which is a rare condition that affects the nervous system. Signs and symptoms usually begin around age 30, but they can develop anytime between adolescence and late adulthood. Affected people generally experience behavioral abnormalities, dementia; difficulties with muscle coordination (ataxia); and involuntary movements such as tremors or tics. It can be caused by changes (mutations) in the DNAJC5 or CTSF gene and is inherited in an autosomal dominant manner. Treatment options are limited to therapies that can help relieve some of the symptoms. | |
What are the symptoms of Autosomal dominant neuronal ceroid lipofuscinosis 4B ? | What are the signs and symptoms of Autosomal dominant neuronal ceroid lipofuscinosis 4B? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant neuronal ceroid lipofuscinosis 4B. 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 - Ataxia - Auditory hallucinations - Autosomal dominant inheritance - Curvilinear intracellular accumulation of autofluorescent lipopigment storage material - Dementia - Depression - Fingerprint intracellular accumulation of autofluorescent lipopigment storage material - Granular osmiophilic deposits (GROD) in cells - Increased neuronal autofluorescent lipopigment - Myoclonus - Parkinsonism - Rapidly progressive - Rectilinear intracellular accumulation of autofluorescent lipopigment storage material - Seizures - Visual hallucinations - 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) Michels syndrome ? | Michels syndrome is an extremely rare disorder characterized by the eyelid triad of blepharophimosis (a narrowing of the eye opening), blepharoptosis and epicanthus inversus (an upward fold of the skin of the lower eyelid near the inner corner of the eye), skeletal defects including craniosynostosis, cranial asymmetry, abnormality of the occipital bone (at the base of the skull), and radioulnar synostosis, cleft lip and palate, and mental deficiency. Only 10 cases have been reported in the medical literature. While the underlying cause of this condition remains unknown, it is believed to be transmitted as an autosomal recessive trait. Based on phenotypic overlap and autosomal recessive inheritance, some researchers have suggested that Michels, Malpuech, Carnevale and Mingarelli syndromes represent a spectrum and should be referred to a 3MC syndrome (for Malpuech-Michels-Mingarelli-Carnevale). | |
What are the symptoms of Michels syndrome ? | What are the signs and symptoms of Michels syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Michels 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 eye movement - Abnormality of the anterior chamber - Autosomal recessive inheritance - Blepharophimosis - Broad foot - Cleft palate - Cleft upper lip - Clinodactyly of the 5th finger - Conductive hearing impairment - Conjunctival telangiectasia - Coronal craniosynostosis - Dental crowding - Epicanthus inversus - Glaucoma - Growth delay - Highly arched eyebrow - Hydronephrosis - Hypertelorism - Intellectual disability, mild - Lambdoidal craniosynostosis - Microcephaly - Omphalocele - Postnatal growth retardation - Ptosis - Radioulnar synostosis - Sacral dimple - Short 5th finger - Short foot - Single interphalangeal crease of fifth finger - Skull asymmetry - Spina bifida occulta - Supernumerary nipple - Underdeveloped supraorbital ridges - Wide anterior fontanel - 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) Paget disease of bone ? | Paget disease of bone is a disorder that involves abnormal bone destruction and regrowth, which results in deformity. This condition can affect any of the bones in the body; but most people have it in their spine, pelvis, skull, or leg bones. The disease may affect only one bone or several bones; but it does not affect the entire skeleton. Bones with Paget disease may break more easily, and the disease can lead to other health problems. The cause of Paget disease is unknown, although it may be associated with faulty genes or viral infections early in life. | |
What are the symptoms of Paget disease of bone ? | What are the signs and symptoms of Paget disease of bone? The Human Phenotype Ontology provides the following list of signs and symptoms for Paget disease of bone. 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) Bilateral conductive hearing impairment 40% Abnormality of pelvic girdle bone morphology - Autosomal dominant inheritance - Bone pain - Brain stem compression - Cranial nerve paralysis - Elevated alkaline phosphatase - Fractures of the long bones - Heterogeneous - Hydroxyprolinuria - Increased susceptibility to fractures - Long-tract signs - Osteolysis - Paraparesis - Tetraparesis - Vertebral compression fractures - 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 progressive external ophthalmoplegia ? | Chronic progressive external ophthalmoplegia (CPEO) is a condition characterized mainly by a loss of the muscle functions involved in eye and eyelid movement. Signs and symptoms tend to begin in early adulthood and most commonly include weakness or paralysis of the muscles that move the eye (ophthalmoplegia) and drooping of the eyelids (ptosis). Some affected individuals also have general weakness of the skeletal muscles (myopathy), which may be especially noticeable during exercise. Muscle weakness may also cause difficulty swallowing (dysphagia). CPEO can be caused by mutations in any of several genes, which may be located in mitochondrial DNA or nuclear DNA. It has different inheritance patterns depending on the gene involved in the affected individual. CPEO can occur as part of other underlying conditions, such as ataxia neuropathy spectrum and Kearns-Sayre syndrome. These conditions may not only involve CPEO, but various additional features that are not shared by most individuals with CPEO. | |
What are the symptoms of Chronic progressive external ophthalmoplegia ? | What are the signs and symptoms of Chronic progressive external ophthalmoplegia? The signs and symptoms of chronic progressive external ophthalmoplegia (CPEO) typically begin in young adults between the ages of 18 and 40. The most common symptoms in affected individuals include drooping eyelids (ptosis) and weakness or paralysis of the eye muscles (ophthalmoplegia). The condition may be unilateral (affecting one eye) or bilateral (affecting both eyes). Some affected individuals also have weakness of the skeletal muscles (myopathy), specifically of the arms, legs, and/or neck. This may be especially noticeable during exercise. Muscle weakness may also cause difficulty swallowing (dysphagia). Sometimes, CPEO may be associated with other signs and symptoms. In these cases, the condition is referred to as "progressive external ophthalmoplegia plus" (PEO+). Additional signs and symptoms can include hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss), weakness and loss of sensation in the limbs due to nerve damage (neuropathy), impaired muscle coordination (ataxia), a pattern of movement abnormalities known as parkinsonism, or depression. CPEO can also occur as part of other underlying conditions such as Kearns-Sayre syndrome. These conditions may not only involve CPEO, but various additional features that are not shared by most individuals with CPEO. The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic progressive external ophthalmoplegia. 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 - Bradykinesia - Cataract - Decreased activity of cytochrome C oxidase in muscle tissue - Depression - Dysarthria - Dysphagia - EMG: myopathic abnormalities - Exercise intolerance - Facial palsy - Gait ataxia - Gastroparesis - Hypergonadotropic hypogonadism - Hyporeflexia - Impaired distal proprioception - Impaired distal vibration sensation - Increased serum lactate - Increased variability in muscle fiber diameter - Limb muscle weakness - Multiple mitochondrial DNA deletions - Muscle fiber necrosis - Parkinsonism with favorable response to dopaminergic medication - Pes cavus - Phenotypic variability - Premature ovarian failure - Primary amenorrhea - Progressive - Progressive external ophthalmoplegia - Progressive muscle weakness - Ptosis - Ragged-red muscle fibers - Resting tremor - Rigidity - Secondary amenorrhea - Sensorineural hearing impairment - Sensory axonal neuropathy - Skeletal muscle atrophy - Subsarcolemmal accumulations of abnormally shaped mitochondria - Testicular atrophy - 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. | |
Is Chronic progressive external ophthalmoplegia inherited ? | Is chronic progressive external ophthalmoplegia inherited? Chronic progressive external ophthalmoplegia (CPEO) can be inherited, or it can occur sporadically (due to a new mutation in an individual with no history of the condition in the family). CPEO is considered a "mitochondrial disorder." This is because all the genetic mutations that can cause CPEO ultimately result in dysfunction of the mitochondria, which are structures in our cells that produce energy required for normal cell function. While most of our DNA is located in the cell's center (nuclear DNA), some of our DNA is located within the mitochondria (mitochondrial DNA). CPEO can be caused by mutations in any of several genes, which may be located in mitochondrial DNA or nuclear DNA. It has different inheritance patterns depending on the gene involved in the affected individual. Unlike nuclear DNA which is inherited from both the mother and the father, mitochondrial DNA is inherited from only the mother. In CPEO, the affected mitochondria (i.e., the ones carrying the mutations) are found only in the skeletal muscle cells. These mitochondrial DNA mutations are almost always sporadic (occurring by chance for the first time in the affected individual). Nuclear gene mutations that cause CPEO may be inherited in an autosomal recessive or autosomal dominant manner, depending on the gene involved. The risk for other family members to be affected depends on the genetic cause and the inheritance pattern in the family. | |
What are the treatments for Chronic progressive external ophthalmoplegia ? | How might chronic progressive external ophthalmoplegia be treated? Ptosis caused by chronic progressive external ophthalmoplegia (CPEO) can be corrected by surgery, or by using glasses that have a ptosis crutch to lift the upper eyelids. Strabismus surgery can be helpful in carefully selected patients if diplopia (double vision) occurs. Some individuals with a deficiency of coenzyme Q10 have CPEO as an associated abnormality. Coenzyme Q10 is important for normal mitochondrial function. In individuals with this deficiency, supplemental coenzyme Q10 has been found to improve general neurologic function and exercise tolerance. However, coenzyme Q10 has not been shown to improve the ophthalmoplegia or ptosis in people who have isolated CPEO. | |
What is (are) Stiff person syndrome ? | Stiff person syndrome (SPS) is a rare neurological disorder with features of an autoimmune disease. Symptoms may include muscle stiffness in the trunk and limbs, and heightened sensitivity to noise, touch, and emotional distress, which can set off muscle spasms. Affected people may also have abnormal postures, such as being hunched over. SPS affects twice as many women as men. It is frequently associated with other autoimmune diseases such as diabetes, thyroiditis, vitiligo, and pernicious anemia. The exact causes of SPS is not known. Treatment may involve high-dose diazepam, anti-convulsants, or intravenous immunoglobulin (IVIG). | |
What are the symptoms of Stiff person syndrome ? | What are the signs and symptoms of Stiff person syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Stiff person 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) Adult onset - Agoraphobia - Anemia - Anxiety - Asymmetric limb muscle stiffness - Autoimmunity - Axial muscle stiffness - Depression - Exaggerated startle response - Fever - Frequent falls - Hyperhidrosis - Hyperreflexia - Hypertension - Lumbar hyperlordosis - Myoclonic spasms - Opisthotonus - Proximal limb muscle stiffness - Rigidity - Sporadic - Tachycardia - Vitiligo - 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 Stiff person syndrome ? | What causes stiff person syndrome? Scientists dont yet understand what causes stiff person syndrome, but research indicates that it is the result of an abnormal autoimmune response in the brain and spinal cord. Most people with stiff person syndrome have antibodies to glutamic acid decarboxylase (GAD), a protein in some nerve cells involved in making a substance called gamma-aminobutyric acid (GABA) that helps to control muscle movement. The symptoms of stiff person syndrome may develop when the immune system mistakenly attacks the neurons that produce GAD, leading to a deficiency of this protein in the body. The exact role that deficiency of GAD plays in the development of stiff person syndrome is not fully understood. | |
Is Stiff person syndrome inherited ? | Is stiff person syndrome inherited? Genetic factors involved in causing stiff person syndrome have not been established. While most cases appear to occur in an isolated manner, some familial cases have been reported. The fact that stiff person syndrome can occur with other autoimmune disorders suggests that genetics may play a role. | |
How to diagnose Stiff person syndrome ? | Is genetic testing available for stiff person syndrome? Genetic testing is not available for stiff person syndrome, as the underlying genetic cause (if any) has not yet been established. How is stiff person syndrome diagnosed? A diagnosis of stiff person syndrome (SPS) is typically made based on the presence of the characteristic symptoms, a detailed medical history, a thorough clinical exam, and various tests. Specific tests are used to support or confirm the diagnosis, and to rule out conditions with overlapping symptoms. These tests may include screening tests to detect antibodies against glutamic acid decarboxylase (GAD) and amphiphysin, and an electromyography (EMG) which records electrical activity in skeletal muscles. About 60% to 80% of affected people have autoantibodies against GAD. Although the absence of GAD antibodies does not rule out SPS, the presence of high levels of GAD antibodies in appropriate people strongly supports the diagnosis. An EMG typically shows continuous motor activity, which is characteristic of SPS. Very high levels of GAD antibodies and characteristic EMG findings will confirm the diagnosis in the majority of people with SPS. Additional laboratory testing may also be used to support a diagnosis of SPS, such as hemoglobin A1C (due to association with diabetes mellitus); complete blood count (due to association with pernicious anemia); comprehensive metabolic profile; and thyroid-stimulating hormone (due to association with thyroiditis). Lumbar puncture should be obtained in people with symptoms consistent with SPS to rule out other causes. Oligoclonal bands can be seen in about two thirds of affected people who are antibody-positive. | |
What are the treatments for Stiff person syndrome ? | How might stiff person syndrome be treated? Treatment of stiff person syndrome (SPS) focuses on the specific symptoms present in each person. Benzodiazepines may be used to treat muscle stiffness and episodic spasms; baclofen may be used in addition to benzodiazepines. Anti-seizure drugs have reportedly been effective for some people. More recently, studies have shown that intravenous immunoglobulin (IVIG) is effective in improving many of the symptoms of SPS. Research involving additional treatment options for SPS is ongoing. Additional information about the treatment of stiff person syndrome can be viewed on Medscape Reference's Web site. | |
What is (are) Squamous cell carcinoma of the head and neck ? | Cancers that are known collectively as head and neck cancers usually begin in the squamous cells that line the moist, mucosal surfaces inside the head and neck (for example, inside the mouth, the nose, and the throat). These squamous cell cancers are often referred to as squamous cell carcinomas of the head and neck. At least 75 % of head and neck cancers are caused by tobacco and alcohol use. Infection with cancer-causing types of human papillomavirus (HPV), especially HPV-16, is a risk factor for some types of head and neck cancers. The symptoms of head and neck cancers may include a lump or a sore that does not heal, a sore throat that does not go away, difficulty in swallowing, and a change or hoarseness in the voice. Treatment for head and neck cancer can include surgery, radiation therapy, chemotherapy, targeted therapy, or a combination of treatments. | |
What are the symptoms of Scapuloperoneal syndrome, neurogenic, Kaeser type ? | What are the signs and symptoms of Scapuloperoneal syndrome, neurogenic, Kaeser type? The Human Phenotype Ontology provides the following list of signs and symptoms for Scapuloperoneal syndrome, neurogenic, Kaeser type. 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 - Foot dorsiflexor weakness - Peroneal muscle atrophy - Scapuloperoneal weakness - Shoulder girdle muscle atrophy - 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 IMAGe syndrome ? | What are the signs and symptoms of IMAGe syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for IMAGe 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 the adrenal glands 90% Abnormality of the upper urinary tract 90% Cryptorchidism 90% Depressed nasal bridge 90% Displacement of the external urethral meatus 90% Frontal bossing 90% Intrauterine growth retardation 90% Low-set, posteriorly rotated ears 90% Micromelia 90% Muscular hypotonia 90% Macrocephaly 5% Adrenal hypoplasia - Autosomal dominant inheritance - Delayed skeletal maturation - Epiphyseal dysplasia - Growth hormone deficiency - Hypercalcemia - Hypercalciuria - Hypospadias - Low-set ears - Metaphyseal dysplasia - Micropenis - Postnatal growth retardation - Prominent forehead - Short nose - 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) Bilateral frontal polymicrogyria ? | Bilateral frontal polymicrogyria is one of the rarest subtypes of polymicrogyria. It is a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Some researchers classify the condition into two different forms: bilateral frontal polymicrogyria and the bilateral frontoparietal. Signs and symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. Seizures may also be present. The frontoparietal form is caused by changes (mutations) in the GPR56 gene but the cause for the frontal form of polymicrogyira is still not known. Treatment is based on the signs and symptoms present in each person. | |
What is (are) Chondrodysplasia punctata 1, X-linked recessive ? | Chondrodysplasia punctata 1, X-linked recessive (CDPX1) is a genetic disorder present from birth that affects bone and cartilage development. On x-ray, affected infants have characteristic spots at the ends of their bones. These spots are called chondrodysplasia punctata or stippled epiphyses and typically disappear between age 2 and 3. Additional common features of CDPX1 are shortened fingers and a flat nose. Some people with this condition have breathing abnormalities, hearing loss, abnormalities of the spinal bones in the neck, and delayed intellectual development. CDPX1 is caused by changes in the ARSE gene, which is located on the X chromosome. This condition is inherited in an X-linked recessive manner and occurs almost exclusively in males. Most affected individuals have a normal lifespan, although some individuals experience complications that can be life-threatening. | |
What are the symptoms of Chondrodysplasia punctata 1, X-linked recessive ? | What are the signs and symptoms of Chondrodysplasia punctata 1, X-linked recessive? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrodysplasia punctata 1, X-linked recessive. 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 vertebral column - Anosmia - Cataract - Depressed nasal bridge - Epiphyseal stippling - Hearing impairment - Hypogonadism - Ichthyosis - Microcephaly - Short distal phalanx of finger - Short nasal septum - Short nose - Short stature - 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 Idiopathic CD4 positive T-lymphocytopenia ? | What are the signs and symptoms of Idiopathic CD4 positive T-lymphocytopenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic CD4 positive T-lymphocytopenia. 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 - Bronchiolitis obliterans organizing pneumonia - Immunodeficiency - Lymphopenia - Recurrent otitis media - Recurrent sinusitis - 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 Reticular dysgenesis ? | What are the signs and symptoms of Reticular dysgenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Reticular 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 mitochondrial metabolism 90% Abnormality of neutrophils 90% Anemia 90% Aplasia/Hypoplasia of the thymus 90% Cellular immunodeficiency 90% Decreased antibody level in blood 90% Diarrhea 90% Hearing impairment 90% Leukopenia 90% Otitis media 90% Recurrent respiratory infections 90% Sepsis 90% Severe combined immunodeficiency 90% Abnormality of temperature regulation 50% Malabsorption 50% Weight loss 50% Dehydration 7.5% Skin rash 7.5% Skin ulcer 7.5% Abnormality of the thymus - Absent cellular immunity - Autosomal recessive inheritance - Congenital agranulocytosis - Lymphopenia - 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 Chang Davidson Carlson syndrome ? | What are the signs and symptoms of Chang Davidson Carlson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chang Davidson Carlson 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 the kidney 95% Abnormality of retinal pigmentation 90% Abnormality of the genital system 90% Anterior hypopituitarism 90% Micropenis 88% Myopia 75% Astigmatism 63% Cataract 30% Glaucoma 22% Rod-cone dystrophy 8% Abnormality of the ovary 7.5% Hearing impairment 7.5% Macrocephaly 7.5% Vaginal atresia 7.5% Aganglionic megacolon 5% Asthma - Ataxia - Autosomal recessive inheritance - Biliary tract abnormality - Brachydactyly syndrome - Broad foot - Congenital primary aphakia - Decreased testicular size - Delayed speech and language development - Dental crowding - Diabetes mellitus - Foot polydactyly - Gait imbalance - Hepatic fibrosis - High palate - Hirsutism - Hypertension - Hypodontia - Hypogonadism - Intellectual disability - Left ventricular hypertrophy - Nephrogenic diabetes insipidus - Neurological speech impairment - Nystagmus - Obesity - Poor coordination - Postaxial hand polydactyly - Radial deviation of finger - Retinal degeneration - Short foot - Specific learning disability - Strabismus - Syndactyly - 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 autosomal recessive 8 ? | What are the signs and symptoms of Spinocerebellar ataxia autosomal recessive 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia autosomal recessive 8. 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) Incoordination 90% Cerebellar atrophy - Dysarthria - Dysmetria - Gait ataxia - Limb ataxia - Nystagmus - 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) Alport syndrome ? | Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome also frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. In 80% of cases, Alport syndrome is inherited in an X-linked manner and is caused by mutations in the COL4A5 gene. In the remaining cases, it may be inherited in either an autosomal recessive or autosomal dominant manner and caused by mutations in the COL4A3 or COL4A4 genes. Treatment may include use of a hearing aid; hemodialysis and peritoneal dialysis to treat those with end-stage renal failure; and kidney transplantation. | |
What are the symptoms of Alport syndrome ? | What are the signs and symptoms of Alport syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Alport 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) Glomerulopathy 90% Retinopathy 90% Sensorineural hearing impairment 90% Aplasia/Hypoplasia of the lens 50% Aseptic leukocyturia 50% Cataract 50% Dry skin 50% Edema of the lower limbs 50% Hypertension 50% Migraine 50% Nephrotic syndrome 50% Pallor 50% Periorbital edema 50% Proteinuria 50% Renal insufficiency 50% Respiratory insufficiency 50% Tinnitus 50% Weight loss 50% Abdominal situs inversus 7.5% Abnormality of the macula 7.5% Corneal dystrophy 7.5% Feeding difficulties in infancy 7.5% Myopia 7.5% Nausea and vomiting 7.5% Neoplasm of the colon 7.5% Photophobia 7.5% Sarcoma 7.5% Thrombocytopenia 7.5% Uterine neoplasm 7.5% Anterior lenticonus - Congenital cataract - Corneal erosion - Diffuse glomerular basement membrane lamellation - Diffuse leiomyomatosis - Heterogeneous - Hypoparathyroidism - Ichthyosis - Microscopic hematuria - Nephritis - Progressive - Stage 5 chronic kidney disease - X-linked dominant 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 causes Alport syndrome ? | What causes Alport syndrome? Alport syndrome may be caused by mutations in either the COL4A3, COL4A4, or COL4A5 genes. These genes each provide instructions for making one component of a protein called type IV collagen, which plays an important role in the glomeruli of the kidneys. Glomeruli are clusters of specialized blood vessels that remove water and waste products from the blood and create urine. Mutations in the genes mentioned above result in abnormalities of the type IV collagen in glomeruli, which prevents the kidneys from properly filtering the blood. As a result, blood and protein pass into the urine. Over time, the kidneys become scarred and many people with Alport syndrome develop kidney failure. Type IV collagen is also an important component of the organ of Corti, an inner ear structure that transforms sound waves into nerve impulses for the brain. Alterations in type IV collagen may result in abnormal inner ear function, which can lead to hearing loss. In addition, type IV collagen plays a role in the eye, where it helps maintain the shape of the lens and the normal color of the retina. Mutations found in Alport syndrome may affect the shape of the lenses and the color of the retina. | |
Is Alport syndrome inherited ? | How is Alport syndrome inherited? Alport syndrome can have different inheritance patterns. About 80 percent of cases are caused by mutations in the COL4A5 gene and are inherited in an X-linked recessive pattern. This gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the COL4A5 gene in each cell is sufficient to cause kidney failure and other severe symptoms of the disorder. In females (who have two X chromosomes), a mutation in only one copy of the COL4A5 gene usually only results in hematuria, but some women experience more severe symptoms. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. | |
What are the treatments for Alport syndrome ? | How might Alport syndrome be treated? Although there is no one specific treatment for Alport syndrome, the goals of treatment include monitoring and controlling progression of the disease and treating the symptoms. Strict control of blood pressure is very important. Research suggests that ACE inhibitors can help reduce proteinuira and the progression of kidney disease. However, treatment of chronic kidney failure often becomes necessary. This can include dietary modifications, fluid restriction, and other treatments. Ultimately, chronic kidney failure progresses to end-stage kidney disease, requiring dialysis or transplantation. Kidney transplantation in patients with Alport syndrome is usually successful, but some studies have reported that about 10% of transplanted patients develop nephritis in the graft. Other aspects of the condition are addressed as needed. For instance, surgical repair of cataracts (cataract extraction), or repair of the anterior lenticonus in the eye may be needed. Loss of hearing is likely to be permanent. Counseling and education to increase coping skills can be helpful. Learning new skills such as lip reading or sign language may be of some benefit. Hearing aids are helpful. Young men with Alport syndrome should use hearing protection in noisy environments. Genetic counseling may be recommended because of the inherited pattern of the disorder. Additional information related to the treatment of Alport syndrome can be accessed through GeneReviews and eMedicine. | |
What are the symptoms of Hirschsprung disease type d brachydactyly ? | What are the signs and symptoms of Hirschsprung disease type d brachydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Hirschsprung disease type d brachydactyly. 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) Aganglionic megacolon 90% Aplastic/hypoplastic toenail 90% Abnormality of the hallux 50% Anonychia 50% Brachydactyly syndrome 50% Short toe 50% Short thumb - Type D brachydactyly - 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 Pheochromocytoma, childhood ? | What are the signs and symptoms of Pheochromocytoma, childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Pheochromocytoma, childhood. 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 - Cafe-au-lait spot - Cerebral hemorrhage - Congenital cataract - Congestive heart failure - Elevated urinary norepinephrine - Episodic hypertension - Hemangioma - Hypercalcemia - Hyperhidrosis - Hypertensive retinopathy - Neoplasm - Pheochromocytoma - Positive regitine blocking test - Proteinuria - Renal artery stenosis - 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 Malignant hyperthermia arthrogryposis torticollis ? | What are the signs and symptoms of Malignant hyperthermia arthrogryposis torticollis? The Human Phenotype Ontology provides the following list of signs and symptoms for Malignant hyperthermia arthrogryposis torticollis. 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) Camptodactyly of finger 90% Congenital muscular torticollis 90% Facial asymmetry 90% Limitation of joint mobility 90% Long philtrum 90% Low-set, posteriorly rotated ears 90% Plagiocephaly 90% Prominent metopic ridge 90% Scoliosis 90% Skeletal muscle atrophy 90% Talipes 90% Tapered finger 90% Ulnar deviation of finger 90% Webbed neck 90% Abnormality of the nipple 50% Abnormality of the voice 50% Amniotic constriction ring 50% Arachnodactyly 50% Cleft palate 50% Conductive hearing impairment 50% Cryptorchidism 50% Downturned corners of mouth 50% Malignant hyperthermia 50% Mask-like facies 50% Narrow mouth 50% Pectus excavatum 50% Prominent nasal bridge 50% Ptosis 50% Scrotal hypoplasia 50% Short stature 50% Abnormality of the fingernails 7.5% Abnormality of the ribs 7.5% Abnormality of the skin 7.5% Advanced eruption of teeth 7.5% Asymmetric growth 7.5% Broad alveolar ridges 7.5% Dolichocephaly 7.5% Exaggerated cupid's bow 7.5% Finger syndactyly 7.5% Full cheeks 7.5% Hernia of the abdominal wall 7.5% Hypotelorism 7.5% Kyphosis 7.5% Malar flattening 7.5% Muscular hypotonia 7.5% Polyhydramnios 7.5% Prenatal movement abnormality 7.5% Proptosis 7.5% Respiratory insufficiency 7.5% Sloping forehead 7.5% Abnormality of the mandible - Autosomal recessive inheritance - Natal tooth - 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) Ovarian small cell carcinoma ? | Ovarian small cell carcinoma is a rare cancer that typically occurs in young women. It is an aggressive tumor that can metastasize to other parts of the body. Ovarian small cell carcinoma is associated with hypercalcemia and is usually treated with platinum or etoposide-based chemotherapy. | |
What are the treatments for Ovarian small cell carcinoma ? | What treatments are available for ovarian small cell carcinoma? Ovarian small cell carcinoma is often treated with surgery and chemotherapy. Radiation therapy may also be used in some cases. Because this tumor is derived from the primitive germ cells (eggs) of the ovary, it is often treated with a chemotherapy regimen similar to what is used to treat ovarian germ cell tumors. Specifically, platinum and etoposide based chemotherapy is typically used to treat ovarian small cell carcinoma. | |
What is (are) Kawasaki syndrome ? | Kawasaki syndrome is a condition that involves inflammation of the blood vessels. It is typically diagnosed in young children, but older children and adults can also develop this condition. Kawasaki syndrome often begins with a fever that lasts at least 5 days. Other classic symptoms may include red eyes, lips, and mouth; rash; swollen and red hands and feet; and swollen lymph nodes. Sometimes the condition affects the coronary arteries (which carry oxygen-rich blood to the heart). This can lead to serious heart problems. Kawasaki syndrome occurs most often in people of Asian and Pacific Island descent. The cause of Kawasaki disease is unknown. An infection along with genetic factors may be involved. Treatment includes intravenous gamma globulin and high doses of aspirin in a hospital setting. | |
What are the symptoms of Kawasaki syndrome ? | What are the signs and symptoms of Kawasaki syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kawasaki 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) Cheilitis 90% Glossitis 90% Inflammatory abnormality of the eye 90% Lymphadenopathy 90% Proteinuria 90% Recurrent pharyngitis 90% Skin rash 90% Vasculitis 90% Abdominal pain 50% Abnormality of nail color 50% Abnormality of temperature regulation 50% Abnormality of the heart valves 50% Abnormality of the pericardium 50% Arthritis 50% Diarrhea 50% Dry skin 50% Edema 50% Leukocytosis 50% Abnormality of the myocardium 7.5% Arrhythmia 7.5% Arthralgia 7.5% Aseptic leukocyturia 7.5% Behavioral abnormality 7.5% Biliary tract abnormality 7.5% Congestive heart failure 7.5% Coronary artery disease 7.5% Cranial nerve paralysis 7.5% Dilatation of the ascending aorta 7.5% Meningitis 7.5% Migraine 7.5% Nausea and vomiting 7.5% Ptosis 7.5% Restrictive lung disease 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 causes Kawasaki syndrome ? | What genes are related to Kawasaki syndrome? A variation in the ITPKC gene has been associated with an increased risk of developing Kawasaki syndrome. This gene provides instructions for making an enzyme called inositol 1,4,5-triphosphate 3-kinase C. This enzyme helps limit the activity of immune system cells called T cells, which identify foreign substances and defend the body against infection. Reducing the activity of T cells when appropriate prevents the overproduction of immune proteins called cytokines that lead to inflammation and can, when present in large quantities, can cause tissue damage. Researchers believe that variations in the ITPKC gene may interfere with the body's ability to reduce T cell activity, leading to inflammation that damages blood vessels and results in the symptoms of this disease. It is likely that other factors, including changes in additional genes, also influence the development of this complex disorder. What causes Kawasaki syndrome? The cause of Kawasaki syndrome isn't known. The body's response to a virus or infection combined with genetic factors may cause the disease. However, no specific virus or infection has been found, and the role of genetics is not well understood. Kawasaki syndrome is not contagious; it can't be passed from one child to another. | |
Is Kawasaki syndrome inherited ? | Is Kawasaki syndrome inherited? A predisposition to Kawasaki syndrome appears to be passed through generations in families, but the inheritance pattern is unknown. | |
What are the treatments for Kawasaki syndrome ? | How might Kawasaki disease be treated? Intravenous gamma globulin is the standard treatment for Kawasaki disease and is administered in high doses. Children with Kawasaki disease usually greatly improve within 24 hours of treatment with IV gamma globulin. Aspirin is often given in combination with the IV gamma globulin as part of the treatment plan. We found limited information on the management of Kawasaki disease specifically in adults, however you may find the following articles to be helpful: Dauphin C. et al., Kawasaki disease is also a disease of adults: report of six cases. Arch Mal Coeur Vaiss [serial online]. 2007;100(5):439-447. Sve P, Stankovic K, Smail A, Durand DV, Marchand G, and Broussolle C. Adult Kawasaki disease: report of two cases and literature review. Semin Arthritis Rheum. 2005;34(6):785-792. Sve P, Bui-Xuan C, Charhon A, and Broussolle C. Adult Kawasaki disease. Rev Med Interne [serial online]. 2003;24(9):577-584.In the article listed above by Dauphin C. et al. the authors describe that of the five adult patients with Kawasaki disease who were treated, all progressed favorably after a course of immunoglobulins. In addition, in the article by Sve P. et al., the authors comment that 'although adult KD often was diagnosed after the acute phase, when a significant beneficial effect from gammaglobulin infusion could not be expected, this treatment did appear to shorten the course of the disease.' | |
What are the symptoms of Hall Riggs mental retardation syndrome ? | What are the signs and symptoms of Hall Riggs mental retardation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hall Riggs mental retardation 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) Anteverted nares 90% Cognitive impairment 90% Epicanthus 90% Microcephaly 90% Neurological speech impairment 90% Short stature 90% Thick lower lip vermilion 90% Wide nasal bridge 90% Abnormality of epiphysis morphology 50% Abnormality of the metaphyses 50% Brachydactyly syndrome 50% Coarse hair 50% Delayed skeletal maturation 50% Downturned corners of mouth 50% Hypertelorism 50% Limb undergrowth 50% Nausea and vomiting 50% Platyspondyly 50% Scoliosis 50% Seizures 50% Slow-growing hair 50% Wide mouth 50% Abnormality of dental enamel 7.5% Delayed eruption of teeth 7.5% Limitation of joint mobility 7.5% Absent speech - Autosomal recessive inheritance - Depressed nasal bridge - Failure to thrive - Feeding difficulties in infancy - Hypoplasia of dental enamel - Hypoplasia of the primary teeth - Intellectual disability - Intrauterine growth retardation - Irregular vertebral endplates - Kyphosis - Metaphyseal dysplasia - Microdontia of primary teeth - Osteoporosis - Prominent nose - U-Shaped upper 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 are the symptoms of Heart-hand syndrome, Spanish type ? | What are the signs and symptoms of Heart-hand syndrome, Spanish type? The Human Phenotype Ontology provides the following list of signs and symptoms for Heart-hand syndrome, Spanish type. 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 metacarpal bones 90% Brachydactyly syndrome 90% Short toe 50% Abnormality of the cardiovascular system - Autosomal dominant inheritance - Short middle phalanx of finger - Sick sinus syndrome - Ulnar deviation of the 2nd finger - 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 Focal palmoplantar and gingival keratoderma ? | What are the signs and symptoms of Focal palmoplantar and gingival keratoderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Focal palmoplantar and gingival keratoderma. 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 fingernails 90% Abnormality of the toenails 90% Gingival overgrowth 90% Palmoplantar keratoderma 90% Hyperhidrosis 50% Autosomal dominant inheritance - Circumungual hyperkeratosis - Focal friction-related palmoplantar hyperkeratosis - Gingival hyperkeratosis - Subungual hyperkeratosis - 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) Sprengel deformity ? | Sprengel deformity is a congenital condition characterized by abnormal development and elevation of the shoulder blade (scapula). Severity can range considerably from being almost invisible when covered with clothes, to the shoulder being elevated over 5 centimeters, with neck webbing. Signs and symptoms may include a lump in the back of the base of the neck and limited movement in the shoulder or arm. The condition may also be associated with other skeletal (bone or cartilage) or muscular abnormalities. Sprengel deformity typically occurs sporadically for no apparent reason but autosomal dominant inheritance has been reported. It is caused by an interruption of normal development and movement of the scapula during early fetal growth (probably between the 9th and 12th weeks of gestation). Treatment often includes physical therapy, but severe cases may require surgery to improve cosmetic appearance and scapular function. | |
What are the symptoms of Sprengel deformity ? | What are the signs and symptoms of Sprengel deformity? Signs and symptoms of Sprengel deformity can vary depending on the severity and whether additional skeletal or muscular abnormalities are present. Some people may not have noticeable signs or symptoms. It more commonly occurs on the left side, but can occur on both sides (bilaterally). In addition to shoulder asymmetry, the elevated shoulder blade may cause a lump in the back of the base of the neck; underdeveloped or incomplete muscles in the surrounding area; and limited movement of the shoulder and arm on the affected side. Some people have bone, cartilage or fiber- like tissue between the shoulder blade and the spinal bones (vertebrae) next to it. Other features that have been found in association with Sprengel deformity include: scoliosis Klippel Feil syndrome limb length discrepancy an underdeveloped backbone (hemivertebrae) missing, fused, or extra ribs (cervical ribs) abnormalities of the collarbone abnormalities of the chest organs of the body displaced on the opposite side (ex: liver on the left and heart on the right) spina bifida occulta cleft palate The Human Phenotype Ontology provides the following list of signs and symptoms for Sprengel deformity. 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 shoulder 90% Sprengel anomaly 90% Cleft palate 7.5% Autosomal dominant inheritance - Cervical segmentation defect - Hemivertebrae - Neck muscle hypoplasia - Rib segmentation abnormalities - Scoliosis - Shoulder muscle hypoplasia - Spina bifida occulta - Sporadic - 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 Sprengel deformity ? | How might Sprengel deformity be treated? Treatment of Sprengel deformity depends on the degree of functional impairment and/or cosmetic disfigurement. Many people with Sprengel deformity do not need surgery and may have physical therapy to maintain range of motion and strengthen weak muscles. For those who do require surgery, the goals are to release the binding of the scapula and relocate the scapula. Surgery can improve the cosmetic appearance and contour of the neck, and improve the scapular function when it is severely impaired. However, the ability to increase shoulder abduction is limited. For surgical indication, many experts refer to the Cavendish classification - one method used for grading the severity of Sprengel deformity. This method classifies the condition into grades I through IV, with grade I being the most mild (almost invisible when covered with clothes) and grade IV being the most severe (with over 5 centimeters of elevation of the shoulder, and neck webbing). Although no improvement or worsening has been reported in untreated grade I and II cases, surgery is recommended in grade III and IV deformities. However, the Cavendish classification may be subjective and inaccurate since it is based on the structure of the deformity (rather than function) and aesthetic criteria. The optimal age for surgery is controversial, but most experts recommend that it be done before age 8 to obtain the best surgical result. There are several surgical options that may be considered depending on each person's situation. Many of the surgical procedures for Sprengel deformity leave unsightly scars, so the cosmetic improvement must be carefully considered. | |
What are the symptoms of Mucopolysaccharidosis type VII ? | What are the signs and symptoms of Mucopolysaccharidosis type VII? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis 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) Abnormality of the pleura 90% Ascites 90% Coarse facial features 90% Cognitive impairment 90% Lymphedema 90% Malar flattening 90% Opacification of the corneal stroma 90% Recurrent respiratory infections 90% Scoliosis 90% Short stature 90% Umbilical hernia 90% Abnormality of the hip bone 50% Abnormality of the liver 50% Epiphyseal stippling 50% Hydrops fetalis 50% Limitation of joint mobility 50% Muscular hypotonia 50% Splenomegaly 50% Talipes 50% Arteriovenous malformation 7.5% Enlarged thorax 7.5% Short neck 7.5% Abnormality of the heart valves - Acetabular dysplasia - Anterior beaking of lower thoracic vertebrae - Anterior beaking of lumbar vertebrae - Autosomal recessive inheritance - Corneal opacity - Dermatan sulfate excretion in urine - Dysostosis multiplex - Flexion contracture - Hearing impairment - Hepatomegaly - Hirsutism - Hydrocephalus - Hypoplasia of the odontoid process - Inguinal hernia - Intellectual disability - J-shaped sella turcica - Macrocephaly - Narrow greater sacrosciatic notches - Neurodegeneration - Pectus carinatum - Platyspondyly - Postnatal growth retardation - Proximal tapering of metacarpals - Thoracolumbar kyphosis - Urinary glycosaminoglycan excretion - 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) Mevalonic aciduria ? | Mevalonic aciduria is the severe form of mevalonate kinase deficiency, a condition characterized by recurrent episodes of fever that typically begin during infancy. During these fever episodes, people with mevalonic aciduria may have an enlarged liver and spleen (hepatosplenomegaly), lymphadenopathy, abdominal pain, diarrhea, joint pain (arthralgia), and skin rashes. Additional ongoing issues include developmental delay, progressive ataxia, progressive problems with vision, an unusually small, elongated head, and failure to thrive. Mevalonic aciduria is caused by deficiency of mevalonate kinase, the first committed enzyme of cholesterol biosynthesis. This deficiency occurs as a result of inherited mutations in the MVK gene. This condition is inherited in an autosomal recessive pattern. Treatment is challenging and remains mainly supportive. The less severe type of mevalonate kinase deficiency is called hyperimmunoglobulinemia D syndrome (HIDS). | |
What are the symptoms of Mevalonic aciduria ? | What are the signs and symptoms of Mevalonic aciduria? The Human Phenotype Ontology provides the following list of signs and symptoms for Mevalonic aciduria. 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) Cerebral cortical atrophy 90% Cognitive impairment 90% Delayed skeletal maturation 90% Dolichocephaly 90% Microcephaly 90% Muscular hypotonia 90% Seizures 90% Short stature 90% Splenomegaly 90% Triangular face 90% Blue sclerae 50% Cataract 50% Incoordination 50% Low-set, posteriorly rotated ears 50% Kyphoscoliosis 5% Aciduria - Agenesis of cerebellar vermis - Arthralgia - Autosomal recessive inheritance - Cerebellar atrophy - Cerebral atrophy - Diarrhea - Edema - Elevated hepatic transaminases - Elevated serum creatine phosphokinase - Failure to thrive - Fluctuating hepatomegaly - Fluctuating splenomegaly - Large fontanelles - Leukocytosis - Low-set ears - Lymphadenopathy - Morbilliform rash - Normocytic hypoplastic anemia - Nystagmus - Posteriorly rotated ears - Progressive cerebellar ataxia - Skin rash - Thrombocytopenia - 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 treatments for Mevalonic aciduria ? | How might mevalonic aciduria be treated? Treatment of mevalonic aciduria remains a challenge. There is no standard treatment that is effective in all patients, so it remains mainly supportive. Treatment with simvastatin (an inhibitor of hydroxymethylglutaryl coenzyme A reductase, the enzyme that catalyzes the formation of mevalonic acid), which has been used with guarded success in patients with HIDS, worsened the clinical status of two patients with mevalonic aciduria. Anakinra, another medication used with some degree of success in HIDS patients, induced partial remission in at least one patient with mevalonic aciduria, but not all patients respond to so favorably. Reports of successful treatment of mevalonic aciduria through allogenic bone marrow transplantation have also surfaced. At this point, this therapy is investigational and potentially applicable to patients with mevalonic aciduria whose condition is resistant to therapy with anti-inflammatory drugs (e.g., inhibitors of TNF-alpha and interleukin-1 beta). The following articles provide additional details regarding treatment of mevalonic aciduria. Nevyjel M, Pontillo A, Calligaris L, Tommasini A, D'Osualdo A, Waterham HR, Granzotto M, Crovella S, Barbi E, Ventura A. Diagnostics and therapeutic insights in a severe case of mevalonate kinase deficiency. Pediatrics. 2007 Feb;119(2):e523-7. Neven B, Valayannopoulos V, Quartier P, Blanche S, Prieur AM, Debr M, Rolland MO, Rabier D, Cuisset L, Cavazzana-Calvo M, de Lonlay P, Fischer A. Allogeneic bone marrow transplantation in mevalonic aciduria. N Engl J Med. 2007 Jun 28;356(26):2700-3. Arkwright PD, Abinun M, Cant AJ. Mevalonic aciduria cured by bone marrow transplantation. N Engl J Med. 2007 Sep 27;357(13):1350. | |
What are the symptoms of Kaufman oculocerebrofacial syndrome ? | What are the signs and symptoms of Kaufman oculocerebrofacial syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kaufman oculocerebrofacial 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 calvarial morphology 90% Arachnodactyly 90% Cognitive impairment 90% Long toe 90% Microcephaly 90% Optic atrophy 90% Respiratory insufficiency 90% Upslanted palpebral fissure 90% Abnormality of the palate 50% Aplasia/Hypoplasia of the eyebrow 50% Blepharophimosis 50% Epicanthus 50% Long face 50% Microcornea 50% Microdontia 50% Muscle weakness 50% Myopia 50% Narrow face 50% Nystagmus 50% Preauricular skin tag 50% Short philtrum 50% Strabismus 50% Telecanthus 50% Thin vermilion border 50% Wide mouth 50% Choroideremia 7.5% Female pseudohermaphroditism 7.5% Autosomal recessive inheritance - Bell-shaped thorax - Brachycephaly - Carious teeth - Clinodactyly of the 5th finger - Clitoromegaly - Constipation - Diastema - High palate - Intellectual disability - Laryngeal stridor - Long palm - Muscular hypotonia - Narrow palm - Neonatal respiratory distress - Optic disc pallor - Ovoid vertebral bodies - Ptosis - Short nose - Single transverse palmar crease - Smooth philtrum - Sparse eyebrow - 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) Bell's palsy ? | Bell's palsy is a form of temporary facial paralysis which results from damage or trauma to one of the facial nerves. This disorder is characterized by the sudden onset of facial paralysis that often affects just one side and can cause significant facial distortion. Symptoms vary, but may include twitching, weakness, drooping eyelid or corner of the mouth, drooling, dry eye or mouth, impairment of taste, and excessive tearing in the eye. While the exact cause is unknown, many researchers believe that a virus may lead to swelling of the 7th cranial nerve. Steroids, such as prednisone, may reduce the inflammation and swelling. Other medications used to treat Bell's palsy include acyclovir (to fight viral infections) and aspirin, acetaminophen, or ibuprofen (to relieve pain). Physical therapy, facial massage and acupuncture have also been used. | |
What are the symptoms of Bell's palsy ? | What are the symptoms of Bell's palsy? |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.