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What are the symptoms of Inclusion body myopathy 2 ? | What are the signs and symptoms of Inclusion body myopathy 2? Inclusion body myopathy 2 causes muscle weakness that appears in late adolescence or early adulthood and worsens over time.The first sign of inclusion body myopathy 2 is often weakness of the tibialis anterior, a muscle in the lower leg that helps control up-and-down movement of the foot. Weakness in the tibialis anterior alters the way a person walks and makes it difficult to run and climb stairs. As the disorder progresses, weakness also develops in muscles of the upper legs, hips, shoulders, and hands. Unlike most forms of myopathy, inclusion body myopathy 2 usually does not affect the quadriceps (a group of large muscles at the front of the thigh). This condition also spares muscles of the eye or heart, and does not cause neurological problems. Weakness in leg muscles makes walking increasingly difficult, and most people with inclusion body myopathy 2 require wheelchair assistance within 20 years after signs and symptoms appear. The Human Phenotype Ontology provides the following list of signs and symptoms for Inclusion body myopathy 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - Autosomal recessive inheritance - Deposits immunoreactive to beta-amyloid protein - Distal amyotrophy - Distal muscle weakness - Elevated serum creatine phosphokinase - EMG: myopathic abnormalities - Gait disturbance - Limb-girdle muscle atrophy - Limb-girdle muscle weakness - Proximal muscle weakness - Rimmed vacuoles - 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 Inclusion body myopathy 2 ? | What causes inclusion body myopathy 2? Inclusion body myopathy 2 is caused by mutations in the GNE gene. The GNE gene provides instructions for making an enzyme responsible for making sialic acid, a simple sugar that attaches to the ends of more complex molecules on the surface of cells. People with inclusion body myopathy 2 have lower levels of sialic acid on the surface of certain proteins that are important for muscle function. This shortage of sialic acid leads to the progressive muscle wasting and disability seen in patients with inclusion body myopathy 2. Researchers are currently working towards a better understanding of how this shortage of sialic acid leads to the progressive muscle weakness in people with this condition. | |
Is Inclusion body myopathy 2 inherited ? | How is inclusion body myopathy 2 inherited? Inclusion body myopathy 2 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 Inclusion body myopathy 2 ? | How might inclusion body myopathy 2 be treated? Currently, there is no cure and no way to prevent the progression of a Inclusion body myopathy 2.[5665] Treatment is focused on managing individual symptoms. People with this condition are often evaluated and managed by a multidisciplinary team including neurologists and physiatrists, as well as physical and occupational therapists.[5666] Researchers at Hadassah, USC, UCLA, UCSD, Johns Hopkins University, Canada, NIH, and Japan are contributing towards finding an effective treatment. Information about treatments which are on the horizon are described in a publication from the Advancement of Research for Myopathies which can be accessed by clicking here. | |
What is (are) Tay-Sachs disease ? | Tay-Sachs disease is a rare inherited disorder that causes progressive destruction of nerve cells in the brain and spinal cord. Tay-Sachs is caused by the absence of a vital enzyme called hexosaminidase-A (Hex-A). Without Hex-A, a fatty substance, or lipid, called GM2 ganglioside accumulates abnormally in cells, especially in the nerve cells of the brain. This ongoing accumulation causes progressive damage to the cells. Tay-Sachs disease is inherited in an autosomal recessive pattern. | |
What are the symptoms of Tay-Sachs disease ? | What are the signs and symptoms of Tay-Sachs disease? The most common form of Tay-Sachs disease begins in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when development slows and muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting, and crawling. As the disease progresses, infants develop seizures, vision and hearing loss, mental retardation, and paralysis. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Children with this severe form of Tay-Sachs disease usually live only into early childhood. Other forms of Tay-Sachs disease are much rarer. Signs and symptoms can begin in childhood, adolescence, or adulthood and are usually milder than those seen with the infantile form of Tay-Sachs disease. As in the infantile form, mental abilities and coordination are affected. Characteristic features include muscle weakness, loss of muscle coordination (ataxia) and other problems with movement, speech problems, and mental illness. These signs and symptoms vary widely among people with late-onset forms of Tay-Sachs disease. The Human Phenotype Ontology provides the following list of signs and symptoms for Tay-Sachs disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 90% Abnormality of the macula 90% Developmental regression 90% EEG abnormality 90% Hearing impairment 90% Hemiplegia/hemiparesis 90% Hyperreflexia 90% Incoordination 90% Macrocephaly 90% Seizures 90% Hepatomegaly 50% Hypertonia 50% Muscular hypotonia 50% Myotonia 50% Optic atrophy 50% Recurrent respiratory infections 50% Splenomegaly 50% Apathy - Aspiration - Autosomal recessive inheritance - Blindness - Cherry red spot of the macula - Dementia - Exaggerated startle response - GM2-ganglioside accumulation - Infantile onset - Poor head control - Psychomotor deterioration - 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 Tay-Sachs disease ? | What causes Tay-Sachs disease? Tay-Sachs disease is caused by mutations in the HEXA gene. The HEXA gene provides instructions for making part of an enzyme called beta-hexosaminidase A, which plays a critical role in the brain and spinal cord. This enzyme is located in lysosomes, which are structures in cells that break down toxic substances and act as recycling centers. Within lysosomes, beta-hexosaminidase A helps break down a fatty substance called GM2 ganglioside. Mutations in the HEXA gene disrupt the activity of beta-hexosaminidase A, which prevents the enzyme from breaking down GM2 ganglioside. As a result, this substance accumulates to toxic levels, particularly in neurons in the brain and spinal cord. Progressive damage caused by the buildup of GM2 ganglioside leads to the destruction of these neurons, which causes the signs and symptoms seen in Tay-Sachs disease, | |
Is Tay-Sachs disease inherited ? | How is Tay-Sachs disease inherited? This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder. | |
What are the treatments for Tay-Sachs disease ? | How might children with Tay-Sachs disease be treated? Although several attempts have been made at purified enzyme replacement therapy for children with Tay-Sachs disease, none has been successful. Cellular infusions and even bone marrow transplantation have been attempted with no evidence of benefit. Because no specific treatment is available for Tay-Sachs disease, treatment is directed at the symptoms and major associated conditions. Treatment is supportive and aimed at providing adequate nutrition and hydration. The airway must be protected. Seizures can be controlled initially with conventional anticonvulsant medications such as benzodiazepines, phenytoins, and/or barbiturates, but the progressive nature of the disease may require alteration of dosage or medication. Infectious diseases should be managed. In advanced disease, good bowel movement should be maintained and severe constipation should be avoided. Good hydration, food additives, stool softeners, laxatives, and other measures should be employed to avoid severe constipation. | |
What are the symptoms of Hard skin syndrome Parana type ? | What are the signs and symptoms of Hard skin syndrome Parana type? The Human Phenotype Ontology provides the following list of signs and symptoms for Hard skin syndrome Parana 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) Generalized hyperpigmentation 90% Limitation of joint mobility 90% Respiratory insufficiency 50% Tapered finger 50% Abnormality of the nipple 7.5% Hyperkeratosis 7.5% Hypertrichosis 7.5% Pectus carinatum 7.5% Round face 7.5% Short stature 7.5% Abnormality of the abdomen - Abnormality of the skin - Autosomal recessive inheritance - Restricted chest movement - Severe postnatal growth retardation - 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) Peutz-Jeghers syndrome ? | Peutz-Jeghers syndrome (PJS) is an inherited condition that is associated with an increased risk of growths along the lining of the gastrointestinal tract (called hamartomatous polyps) and certain types of cancer. Most affected people also have characteristic dark blue to dark brown macules around the mouth, eyes, and nostrils; near the anus (perianal); and on the inside of the cheeks (buccal mucosa). PJS is caused by changes (mutations) in the STK11 gene and is inherited in an autosomal dominant manner. Management typically includes high-risk screening for associated polyps and cancers. | |
What are the symptoms of Peutz-Jeghers syndrome ? | What are the signs and symptoms of Peutz-Jeghers syndrome? Peutz-Jeghers syndrome (PJS) is characterized primarily by an increased risk of growths along the lining of the gastrointestinal tract (called hamartomatous polyps) and certain types of cancer. Polyps are most commonly seen in the small intestines; however, they can also develop in the stomach, large intestines and other parts of the body such as the lungs, gall bladder, nose, and urinary bladder. Although these polyps are generally benign (noncancerous), they can be associated with many health problems including anemia, chronic bleeding, bowel obstruction, and intussusception. PJS-related polyps commonly present in adolescence or early adulthood with approximately a third of affected people experiencing symptoms in the first 10 years of life. People with PJS also have a high lifetime risk of developing cancer. Cancers of the gastrointestinal tract (stomach, small intestine, and colon), breast, pancreas, cervix, ovary, uterus and lungs are among the most commonly reported tumors. Medscape reference offers more specific information regarding the risks for these cancers and the average age of onset. Please click here to view this resource. Most affected people also have characteristic dark blue to dark brown macules around the mouth, eyes, and nostrils; near the anus (perianal); and on the inside of the cheeks (buccal mucosa). These spots may also occur on the hands and feet. They commonly appear during childhood and often fade as the person gets older. The Human Phenotype Ontology provides the following list of signs and symptoms for Peutz-Jeghers syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal pigmentation of the oral mucosa 90% Hypermelanotic macule 90% Intestinal polyposis 90% Lip hyperpigmentation 90% Melanocytic nevus 90% Abdominal pain 7.5% Abnormality of nail color 7.5% Biliary tract neoplasm 7.5% Esophageal neoplasm 7.5% Gastrointestinal hemorrhage 7.5% Gastrointestinal infarctions 7.5% Gynecomastia 7.5% Intestinal obstruction 7.5% Nasal polyposis 7.5% Nausea and vomiting 7.5% Neoplasm of the breast 7.5% Neoplasm of the colon 7.5% Neoplasm of the lung 7.5% Neoplasm of the pancreas 7.5% Neoplasm of the rectum 7.5% Neoplasm of the small intestine 7.5% Neoplasm of the stomach 7.5% Ovarian neoplasm 7.5% Renal neoplasm 7.5% Testicular neoplasm 7.5% Uterine neoplasm 7.5% Abnormality of the mouth - Abnormality of the ureter - Autosomal dominant inheritance - Biliary tract abnormality - Breast carcinoma - Clubbing of fingers - Gastrointestinal carcinoma - Hamartomatous polyposis - Intestinal bleeding - Intussusception - Iron deficiency anemia - Ovarian cyst - Precocious puberty with Sertoli cell tumor - Rectal prolapse - 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 Peutz-Jeghers syndrome ? | What causes Peutz-Jeghers syndrome? Peutz-Jeghers syndrome (PJS) is caused by changes (mutations) in the STK11 gene. STK11 is a tumor suppressor gene which means that it encodes a protein that helps keep cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in STK11 result in a defective protein that is unable to carry out its normal role. This leads to the development of the polyps and tumors found in PJS. Some people with PJS do not have mutations in the STK11 gene. In these cases, the cause is unknown. | |
Is Peutz-Jeghers syndrome inherited ? | Is Peutz-Jeghers syndrome inherited? Peutz-Jeghers syndrome (PJS) is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with PJS has a 50% chance with each pregnancy of passing along the altered gene to his or her child. | |
How to diagnose Peutz-Jeghers syndrome ? | Is genetic testing available for Peutz-Jeghers syndrome? Yes, genetic testing is available for STK11, the gene known to cause Peutz-Jeghers syndrome. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. How is Peutz-Jeghers syndrome diagnosed? A diagnosis of Peutz-Jeghers syndrome (PJS) is based on the presence of characteristic signs and symptoms. In people with a clinical diagnosis of PJS, genetic testing of the STK11 gene confirms the diagnosis in approximately 100% of people who have a positive family history and approximately 90% of people who have no family history of PJS. Genereviews offers more detailed information regarding the diagnosis of PJS including the clinical diagnostic criteria. Click here to view this resource. | |
What are the symptoms of Robinow Sorauf syndrome ? | What are the signs and symptoms of Robinow Sorauf syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Robinow Sorauf 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 - Broad hallux - Duplication of phalanx of hallux - Hypertelorism - Long nose - Malar flattening - Narrow nose - Plagiocephaly - Shallow orbits - Strabismus - 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 Rhizomelic dysplasia Patterson Lowry type ? | What are the signs and symptoms of Rhizomelic dysplasia Patterson Lowry type? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhizomelic dysplasia Patterson Lowry 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) Abnormal form of the vertebral bodies 90% Abnormality of the hip bone 90% Abnormality of the humerus 90% Abnormality of the metacarpal bones 90% Brachydactyly syndrome 90% Depressed nasal ridge 90% Deviation of finger 90% Epicanthus 90% Genu valgum 90% Hyperlordosis 90% Large face 90% Limb undergrowth 90% Malar flattening 90% Mandibular prognathia 90% Short nose 90% Coxa vara - Deformed humeral heads - Platyspondyly - Rhizomelia - Short humerus - 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 Tibia absent polydactyly arachnoid cyst ? | What are the signs and symptoms of Tibia absent polydactyly arachnoid cyst? The Human Phenotype Ontology provides the following list of signs and symptoms for Tibia absent polydactyly arachnoid cyst. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the cerebellum 90% Abnormality of the fibula 50% Abnormality of the ulna 50% Congenital diaphragmatic hernia 50% Intestinal malrotation 50% Non-midline cleft lip 50% Postaxial foot polydactyly 50% Postaxial hand polydactyly 50% Preaxial foot polydactyly 50% Talipes 50% Toe syndactyly 50% Ventriculomegaly 50% Abnormality of the thorax - Aplasia/Hypoplasia of the tibia - Arachnoid cyst - Autosomal recessive inheritance - Choroid plexus cyst - Cleft upper lip - Posterior fossa cyst - Radial bowing - 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 Penttinen-Aula syndrome ? | What are the signs and symptoms of Penttinen-Aula syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Penttinen-Aula 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) Scoliosis 5% Wormian bones 5% Brachydactyly syndrome - Delayed cranial suture closure - Delayed eruption of teeth - Delayed skeletal maturation - Growth abnormality - Hyperkeratosis - Hypermetropia - Hypoplasia of midface - Lipoatrophy - Narrow nose - Osteolytic defects of the phalanges of the hand - Osteopenia - Proptosis - Sensorineural hearing impairment - Slender long bone - Sparse hair - Thin calvarium - Thin vermilion border - Thyroid-stimulating hormone excess - 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) Kienbock's disease ? | Kienbock's disease is a condition characterized by interruption of blood supply to one of the small bones of the hand near the wrist (the lunate). If blood supply to a bone stops, the bone can die; this is known as osteonecrosis. Affected people may first think they have a sprained wrist and may have experienced trauma to the wrist, which can disrupt the blood flow to the lunate. As the disease progresses, signs and symptoms may include a painful and/or swollen wrist; stiffness; decreased grip strength; tenderness directly over the bone; and pain or difficulty in turning the hand upward. The underlying cause of Kienbock's disease is unknown. Treatment aims to relieve the pressure on the bone and restore blood flow within the bone. Surgery may be recommended. | |
What are the symptoms of Kienbock's disease ? | What are the signs and symptoms of Kienbock's disease? Kienbock's disease most commonly affects men between the ages of 20 and 40 years, but it affects women as well. Most affected people report a history of trauma to the wrist. Symptoms can vary depending on the stage of the condition, but usually include pain that is localized to the affected area, decreased motion, swelling, and weakness in the affected hand. Rarely, the condition may occur in both hands. The Human Phenotype Ontology provides the following list of signs and symptoms for Kienbock's disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the wrist 90% Arthralgia 90% Aseptic necrosis 90% Bone pain 90% Limitation of joint mobility 90% Osteoarthritis 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
Is Kienbock's disease inherited ? | Is Kienbock's disease inherited? There is currently no evidence that Kienbock's disease is inherited. However, the cause of Kienbock's disease is not known. It is possible that unidentified genetic factors contribute to the development of the condition. | |
What are the treatments for Kienbock's disease ? | What nonsurgical options are available for the treatment of Kienbock's disease? The primary means of nonsurgical treatment of Kienbock's disease involve immobilization and anti-inflammatory medications. The wrist may be immobilized through splinting or casting over a period of two to three weeks. Anti-inflammatory medications, such as aspirin or ibuprofen, can help to relieve pain and reduce swelling. If the pain continues after these conservative treatments, your physician may refer you to an orthopaedic or hand surgeon for further evaluation. | |
What is (are) Macrodactyly of the hand ? | Macrodactyly of the hand is a rare condition in which a person's fingers are abnormally large due to the overgrowth of the underlying bone and soft tissue. This condition is congenital, meaning that babies are born with it. Although babies are born with the condition, macrodactyly is usually not inherited. Most of the time, only one hand is affected, but usually more than one finger is involved. Macrodactyly may also coexist with syndactyly, a condition in which two fingers are fused together. Although it is a benign condition, macrodactyly is deforming and can look cosmetically displeasing. Surgery, usually involving multiple procedures, can help the problem. | |
What are the symptoms of Familial hypocalciuric hypercalcemia type 2 ? | What are the signs and symptoms of Familial hypocalciuric hypercalcemia type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hypocalciuric hypercalcemia type 2. 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) Nephrolithiasis 5% Peptic ulcer 5% Chondrocalcinosis - Hypercalcemia - Hypermagnesemia - Hypocalciuria - Multiple lipomas - Pancreatitis - Parathormone-independent increased renal tubular calcium reabsorption - Primary hyperparathyroidism - 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) Madelung disease ? | Madelung disease is a rare condition characterized by the symmetric growth of fatty tumors (lipomas) around the neck, shoulders, upper arms and/or upper trunk. It most often affects men of Mediterranean ancestry between the ages of 30 and 70 who have a history of alcohol abuse. Non-alcoholics and women can also be affected. The signs and symptoms vary greatly from person to person. Usually, accumulation of fatty tissue increases over time and may lead to a loss of neck mobility and pain. The lipomas can cause physical deformity and peripheral neuropathy. In the majority of cases, the disease is benign; however, lipomas can become cancerous in rare circumstances. The exact cause of Madelung disease is unknown, but it may be associated with changes (mutations) in mitochondrial DNA and/or alcoholism. Treatment may include medications to correct associated metabolic conditions; surgery or liposuction to remove the lipomas; and avoidance of alcohol. | |
What are the symptoms of Madelung disease ? | What are the signs and symptoms of Madelung disease? The signs and symptoms of Madelung disease vary from person to person. The condition is characterized by the symmetric growth of fatty tumors (lipomas) around the neck, shoulders, upper arms and/or upper trunk. In some affected people, these fatty deposits may grow rapidly over the course of months, while others experience a slower progression over the course of years. The lipomas can be associated with significant physical deformity and may lead to a loss of neck mobility and pain. In the majority of cases, the disease is benign; however, lipomas can become cancerous in rare circumstances. People with Madelung disease may also develop peripheral neuropathy and neurological disturbances including difficulty swallowing, hoarseness, sleep problems, tachycardia (rapid heart rate), fluctuation in blood pressure, and breathing issues. In some cases, it may be associated with other metabolic abnormalities or diseases such as hypertension, diabetes mellitus, hypothyroidism, and liver disease. The Human Phenotype Ontology provides the following list of signs and symptoms for Madelung disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arthralgia 90% Limitation of joint mobility 90% Multiple lipomas 90% Gait disturbance 50% Hepatomegaly 50% Insulin resistance 50% Paresthesia 50% Abnormality of the skin - Autosomal dominant inheritance - Lipoma - Peripheral neuropathy - 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 Madelung disease ? | What causes Madelung disease? The exact underlying cause of Madelung disease remains unknown, but several theories have been proposed. The body's inability to properly metabolize fat in affected people suggests that Madelung disease may be an endocrine disorder. An enzyme defect or a change in the surface of cells could prevent the breakdown of fat leading to the characteristic signs and symptoms of the condition. Alcohol consumption may also play a role in the development of Madelung disease since roughly 90% of affected people have a history of alcohol abuse. Madelung disease has also been linked to genetic factors. Rarely, more than one family member can be affected by this condition which suggests that it may be inherited in at least some cases. In the majority of these families, the mode of inheritance has not been determined. However, changes (mutations) in mitochondrial DNA have been identified in some families who have Madelung disease in combination with other conditions that affect many different systems of the body. | |
Is Madelung disease inherited ? | Is Madelung disease inherited? Although the exact cause of Madelung disease is unknown, most cases are not thought to be inherited. However, more than one family member can occasionally be affected by this condition which suggests that it may be inherited in rare cases. In the majority of these families, the mode of inheritance has not been determined. However, changes (mutations) in mitochondrial DNA have been identified in some families who have Madelung disease in combination with other conditions that affect many different systems of the body. | |
How to diagnose Madelung disease ? | How is Madelung disease diagnosed? Madelung disease is usually diagnosed based on a thorough physical exam, accurate medical history, and imaging studies - computed tomography (CT scan) and/or magnetic resonance imaging (MRI scan). A CT scan is an imaging method that uses x-rays to create pictures of cross-sections of the body, while an MRI scan uses powerful magnets and radio waves to create pictures of the lipomas and surrounding tissues. Both of these tests are useful in establishing a diagnosis of Madelung disease, although MRI is often the preferred method. In some cases, a biopsy of the lipomas may be necessary to confirm the diagnosis. | |
What are the treatments for Madelung disease ? | How might Madelung disease be treated? To date, the most effective treatment for Madelung disease is surgery which may include surgical excision (removal) and/or liposuction. Liposuction has gained popularity in more recent years since it results in minimal scarring. It is also considered less invasive, technically easier, and better suited for people with a higher surgical or anaesthetic risk. Some researchers believe it is unnecessary to subject affected people to the risks of surgery because the condition is usually benign. In their opinion, surgical excision should be limited to those with airway compression or severe physical deformities. The limitations of liposuction include incomplete removal of lipomas. The main disadvantage of surgical excision is the scarring; however, it offers the chance of more extensive "debulking" of affected areas. Reportedly, it is rarely possible to remove the lipomas completely and they often recur after both of these procedures. Some researchers have reported modest success treating the condition with the medication salbutamol, which increases the breakdown of fats. Abstaining from alcohol intake, weight loss, and correction of any associated metabolic/endocrine abnormalities are also recommended. | |
What are the symptoms of Kniest like dysplasia lethal ? | What are the signs and symptoms of Kniest like dysplasia lethal? The Human Phenotype Ontology provides the following list of signs and symptoms for Kniest like dysplasia lethal. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal diaphysis morphology 90% Abnormal form of the vertebral bodies 90% Abnormality of the clavicle 90% Hydrops fetalis 90% Limb undergrowth 90% Lymphedema 90% Macrocephaly 90% Malar flattening 90% Muscular hypotonia 90% Narrow chest 90% Osteoarthritis 90% Respiratory insufficiency 90% Short neck 90% Short stature 90% Short thorax 90% Spina bifida occulta 90% Abnormality of the helix 50% Arrhythmia 50% Atria septal defect 50% Brachydactyly syndrome 50% Cleft palate 50% Depressed nasal bridge 50% Low-set, posteriorly rotated ears 50% Proptosis 50% Abnormality of the pinna - Autosomal recessive inheritance - Breech presentation - Broad ribs - Coronal cleft vertebrae - Dumbbell-shaped long bone - Edema - Flared metaphysis - Flat face - Hypertelorism - Hypoplastic ilia - Hypoplastic vertebral bodies - Lethal short-limbed short stature - Low-set ears - Narrow mouth - Patent ductus arteriosus - Platyspondyly - Polyhydramnios - Premature birth - Protuberant abdomen - Relative macrocephaly - Rhizomelia - Short diaphyses - Short ribs - Skeletal dysplasia - Talipes equinovarus - 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) Congenital hepatic fibrosis ? | Congenital hepatic fibrosis is a rare disease of the liver that is present at birth. Symptoms include the following: a large liver, a large spleen, gastrointestinal bleeding caused by varices, increased pressure in the blood vessels that carry blood to the liver (portal hypertension), and scar tissue in the liver (fibrosis). Isolated congenital hepatic fibrosis is rare; it usually occurs as part of a syndrome that also affects the kidneys. There is no treatment to correct the fibrosis or the specific abnormalities in the blood vessels, but complications such as bleeding and infection can be treated. | |
What causes Congenital hepatic fibrosis ? | What causes congenital hepatic fibrosis? Isolated congenital hepatic fibrosis is rare. Congenital hepatic fibrosis is usually associated with conditions known as hepatorenal fibrocystic diseases (FCD) that can also affect the kidneys. Examples of FCDs include polycystic kidney disease (PKD) and nephronophthisis (NPHP). FCDs can be inherited as autosomal recessive , autosomal dominant , or X-linked recessive disorders. | |
What is (are) Limbic encephalitis ? | Limbic encephalitis is a condition marked by the inflammation of the limbic system and other parts of the brain. The cardinal sign of limbic encephalitis is a severe impairment of short-term memory; however, symptoms may also include confusion, psychiatric symptoms, and seizures. The symptoms typically develop over a few weeks or months, but they may evolve over a few days. Delayed diagnosis is common, but improvements are being made to assist in early detection. Early diagnosis may improve the outcome of limbic encephalitis. | |
What are the symptoms of Limbic encephalitis ? | What symptoms are associated with limbic encephalitis? Although the symptoms of the condition may vary from person to person, the cardinal sign of limbic encephalitis is severe impairment of short-term memory, with most patients having difficulties in recall. A large variety of symptoms may be associated with limbic encephalitis such as anterograde amnesia (the inability to store new memories after the onset of the condition), anxiety, depression, irritability, personality change, acute confusional state, hallucinations and seizures. Other possible symptoms may include obsessiveness, hyperthermia (increase in body temperature), weight change, hypersomnia, endocrine dysfunction, aphasia, and apraxia. The symptoms associated with limbic encephalitis can develop over a few days, weeks, or months. It is important to note the neurological symptoms generally precede diagnosis of the malignancy in 60%-75% of patients that have paraneoplastic limbic encephalitis. | |
What causes Limbic encephalitis ? | What causes limbic encephalitis? In many patients limbic encephalitis is a paraneoplastic syndrome, which is most commonly associated with small cell lung cancer (SCLC), breast cancer, testicular tumors, teratomas, Hodgkin's lymphoma, and thymomas. Out of the various cancers linked to limbic encephalitis, the typically associated tumors are SCLC, which are present in about 40% of patients that have the paraneoplastic form of limbic encephalitis. Seminoma are present in 25% of patients. At a lower rate, nearly any other tumor may be associated. Limbic encephalitis can also occur in the absence of cancer such as in the case of an viral infection and systemic autoimmune disorders. The underlying cause of limbic encephalitis is probably an autoimmune reaction which is brought about by cancer, tumors, infections, or autoimmune disorders. | |
What are the treatments for Limbic encephalitis ? | What treatment is available for limbic encephalitis? Treatment will vary depending on whether the patient has a paraneoplastic form of limbic encephalitis or not. If the patient has a viral infectious form of the condition, an antiviral drug may be prescribed. When a tumor is found in association with a possible paraneoplastic disorder, removal of the tumor and immunotherapy may be offered. | |
What is (are) Noonan syndrome 2 ? | Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndrome may be caused by mutations in any one of several genes including the PTPN11, KRAS, RAF1, SOS1, NRAS and BRAF genes. It is sometimes referred to as a specific subtype based on the responsible gene in an affected person. Noonan syndrome is typically inherited in an autosomal dominant manner but many cases are due to a new mutation and are not inherited from an affected parent. | |
What are the treatments for Noonan syndrome 2 ? | How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. Developmental disabilities are addressed by early intervention programs and individualized education strategies. Treatment for serious bleeding depends upon the specific factor deficiency or platelet abnormality. Growth hormone treatment increases growth velocity. More detailed information about treatment for Noonan syndrome can be viewed on the GeneReviews Web site. | |
What are the symptoms of Feingold syndrome ? | What are the signs and symptoms of Feingold syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Feingold 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) Blepharophimosis 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Microcephaly 90% 4-5 toe syndactyly 86% 2-3 toe syndactyly 56% Anteverted nares 50% Cognitive impairment 50% Depressed nasal bridge 50% External ear malformation 50% Hallux valgus 50% Short stature 50% Toe syndactyly 50% Abnormal form of the vertebral bodies 7.5% Abnormality of the spleen 7.5% Annular pancreas 7.5% Duodenal stenosis 7.5% Oral cleft 7.5% Patent ductus arteriosus 7.5% Sensorineural hearing impairment 7.5% Tracheoesophageal fistula 7.5% Accessory spleen - Aplasia/Hypoplasia of the middle phalanx of the 2nd finger - Aplasia/Hypoplasia of the middle phalanx of the 5th finger - Asplenia - Autosomal dominant inheritance - Decreased fetal movement - Depressed nasal tip - Duodenal atresia - Epicanthus - Esophageal atresia - Facial asymmetry - Hearing impairment - High palate - Intellectual disability - Low-set ears - Polyhydramnios - Polysplenia - Posteriorly rotated ears - Prominent occiput - Short palpebral fissure - Short toe - Small anterior fontanelle - Specific learning disability - Thick vermilion border - Triangular face - Upslanted palpebral fissure - Vocal cord paralysis - 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 is (are) Common variable immunodeficiency ? | Common variable immunodeficiency (CVID) is a group of disorders in which the immune system cannot make antibodies against agents that cause infection (such as bacteria). CVID is characterized by low levels of most or all of the immunoglobulin (Ig) classes. This causes affected people to get frequent infections, particularly in the sinuses, lungs, and digestive tract. Symptoms most commonly begin in early adulthood but have been found in children as young as age two. While in most cases the cause of CVID is unknown, it has been associated with changes (mutations) in at least 10 genes. About 10% of cases are due to mutations in the TNFRSF13B gene. Treatment for CVID includes Ig replacement therapy, which stops the cycle of recurrent infections. | |
What are the symptoms of Common variable immunodeficiency ? | What are the signs and symptoms of Common variable immunodeficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Common variable immunodeficiency. 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) Decreased antibody level in blood 90% Lymphopenia 90% Otitis media 90% Recurrent respiratory infections 90% Sinusitis 90% Thrombocytopenia 90% Abnormality of the bronchi 50% Elevated hepatic transaminases 50% Hemolytic anemia 50% Lymphadenopathy 50% Malabsorption 50% Splenomegaly 50% Subcutaneous hemorrhage 50% Arthralgia 7.5% Emphysema 7.5% Gastrointestinal stroma tumor 7.5% Lymphoma 7.5% Neoplasm of the stomach 7.5% Restrictive lung disease 7.5% Vasculitis 7.5% Autoimmune neutropenia 5% Autosomal recessive inheritance - B lymphocytopenia - Bronchiectasis - Conjunctivitis - Diarrhea - Hepatomegaly - IgA deficiency - IgG deficiency - IgM deficiency - Immunodeficiency - Impaired T cell function - Recurrent bacterial infections - Recurrent bronchitis - Recurrent otitis media - Recurrent pneumonia - 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 causes Common variable immunodeficiency ? | What causes common variable immunodeficiency (CVID)? Common variable immunodeficiency (CVID) is usually sporadic and thought to result from a combination of genetic and environmental factors. In most cases, the exact cause of CVID is unknown. Genetic factors associated with CVID include mutations in genes involved in the development and function of immune system cells (B cells) which help protect against infection. B cells make proteins called antibodies (also known as immunoglobulins), which attach to foreign agents and "mark" them to be destroyed. Mutations in genes associated with CVID result in B cells that don't make enough antibodies. This causes difficulty fighting infections, causing the signs and symptoms of CVID. Mutations in at least 10 genes have been associated with CVID. About 10% of affected people have mutations in the TNFRSF13B gene. However, not all people who inherit a mutation associated with CVID develop the disease. This is why additional genetic and/or environmental factors are probably needed for the disorder to occur. While CVID usually occurs in people with no family history of the condition, some cases are inherited in an autosomal dominant or autosomal recessive manner. | |
What are the treatments for Common variable immunodeficiency ? | How might common variable immunodeficiency be treated? The main treatment for common variable immunodeficiency (CVID) is Ig replacement therapy, which stops the cycle of recurrent infections. Ig may be taken intravenously (through the vein) or subcutaneously (by injection). Adverse reactions to Ig must be monitored during therapy. Ig therapy is effective in most people, leading to less frequent infections and arthritic symptoms. However, gastrointestinal (digestive) symptoms have little improvement with IVIG. In some people wwith CVID and severe autoimmune disease, steroids or other immunosuppressive drugs in addition to Ig therapy may be needed. Detailed information about the management of CVID can be viewed on Medscape Reference's Web site. | |
What is (are) Pseudohypoparathyroidism ? | Pseudohypoparathyroidism is a genetic disorder in which the body is unable to respond to parathyroid hormone. Parathyroid hormone helps control calcium, phosphorous, and vitamin D levels in the bones and blood. Hypoparathyroidism is a similar condition in which the body does not make enough parathyroid hormone instead of not being able to respond to it (as in pseudohypoparathyroidism). The symptoms of these two conditions are similar and are caused by low calcium levels and high phosphate levels in the blood. This may cause cataracts (clouding of the lens of the eye), dental problems, numbness, seizures, or tetany (muscle twitches and hand and foot spasms). These symptoms are usually first seen in childhood. There are two different types of pseudohypoparathyroidism, both of which are caused by spelling mistakes (mutations) in certain genes. Type 1 can be further divided into three sub-types. Click on the links below for more information on the various types of pseudohypoparathyroidism. Pseudohypoparathyroidism type 1A Pseudohypoparathyroidism type 1B Pseudohypoparathyroidism type 1C Pseudohypoparathyroidism type 2 | |
What are the symptoms of Ablepharon macrostomia syndrome ? | What are the signs and symptoms of Ablepharon macrostomia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ablepharon macrostomia syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of the eyelashes 90% Aplasia/Hypoplasia of the eyebrow 90% Cutis laxa 90% Fine hair 90% Hypoplasia of the zygomatic bone 90% Neurological speech impairment 90% Underdeveloped nasal alae 90% Wide mouth 90% Abnormality of female external genitalia 50% Anteverted nares 50% Aplasia/Hypoplasia of the nipples 50% Breast aplasia 50% Camptodactyly of finger 50% Cognitive impairment 50% Cryptorchidism 50% Dry skin 50% Hearing impairment 50% Hypoplasia of penis 50% Microdontia 50% Myopia 50% Opacification of the corneal stroma 50% Thin skin 50% Umbilical hernia 50% Visual impairment 50% Abnormality of skin pigmentation 7.5% Atresia of the external auditory canal 7.5% Corneal erosion 7.5% Depressed nasal bridge 7.5% Omphalocele 7.5% Thin vermilion border 7.5% Toe syndactyly 7.5% Short upper lip 5% Talipes equinovarus 5% Ablepharon - Abnormal nasal morphology - Absent eyebrow - Absent eyelashes - Autosomal recessive inheritance - Cryptophthalmos - Delayed speech and language development - Hypertelorism - Microtia, third degree - Ventral hernia - 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) Ligneous conjunctivitis ? | Ligneous conjunctivitis is a rare disorder characterized by the buildup of a protein called fibrin which causes inflammation of the conjunctiva (conjunctivitis) and leads to thick, woody (ligneous), inflamed growths that are yellow, white, or red. Ligneous conjunctivitis most often occurs on the inside of the eyelids, but may also affect the sclera, cornea and pupil, leading to vision loss. A systemic form of the condition may occur, affecting the mucous membranes of the larynx, vocal chords, nose, trachea, bronchi, vagina, cervix, and gingiva. The cause of ligneous conjunctivitis is unknown. Autosomal recessive inheritance has been suggested in some cases. Ligneous conjunctivitis is sometimes associated with a condition known as congenital plasminogen deficiency. | |
What are the symptoms of Hand and foot deformity with flat facies ? | What are the signs and symptoms of Hand and foot deformity with flat facies? The Human Phenotype Ontology provides the following list of signs and symptoms for Hand and foot deformity with flat facies. 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) Brachydactyly syndrome 90% Camptodactyly of finger 90% Depressed nasal bridge 90% High forehead 90% Long philtrum 90% Malar flattening 90% Abnormality of the palate 50% Coarse hair 50% Low posterior hairline 50% Muscular hypotonia 50% Abnormality of the foot - Autosomal dominant inheritance - Contractures of the interphalangeal joint of the thumb - Flat face - Intellectual disability - Metacarpophalangeal joint contracture - Neonatal hypotonia - 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 are the symptoms of Idiopathic basal ganglia calcification childhood-onset ? | What are the signs and symptoms of Idiopathic basal ganglia calcification childhood-onset? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic basal ganglia calcification childhood-onset. 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 extrapyramidal motor function - Autosomal dominant inheritance - Autosomal recessive inheritance - Basal ganglia calcification - Calcification of the small brain vessels - Decreased body weight - Dense calcifications in the cerebellar dentate nucleus - Dolichocephaly - Dysarthria - Infantile onset - Intellectual disability, progressive - Intellectual disability, severe - Limb joint contracture - Microcephaly - Seizures - Short stature - Spasticity - Tetraplegia - 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) Parsonage Turner syndrome ? | Parsonage Turner syndrome is characterized by the sudden onset of shoulder and upper arm pain followed by progressive (worsening over time) weakness and/or atrophy of the affected area. Although the exact cause is unknown, researchers believe that most cases are due to an autoimmune response following exposure to an illness or environmental factor. Suspected triggers include viral and bacterial infections; surgery; vaccinations; injury; childbirth; strenuous exercise; certain medical procedures; and various health conditions. Treatment is symptomatic and may include pain relievers and physical therapy. | |
What are the symptoms of Parsonage Turner syndrome ? | What are the signs and symptoms of Parsonage Turner syndrome? Parsonage Turner syndrome is usually characterized by the sudden onset of severe pain in the shoulder and upper arm, which is often described as sharp or throbbing. In some cases, the pain may extend to the neck, lower arm and/or hand on the affected side. Rarely, both sides of the body are involved. Affected people typically experience constant pain that may become worse with movement. Intense pain can last from a few hours to several weeks at which point the pain usually begins to subside; however, mild pain may continue for a year or longer. As the pain subsides, it is typically replaced by progressive (worsening over time) weakness of the affected area, ranging from mild weakness to nearly complete paralysis. Affected people may also experience muscle wasting (atrophy); absent or reduced reflexes; and/or loss of sensation. In some cases, nerves and muscles outside of the shoulder and upper arm region may be affected, as well. | |
What causes Parsonage Turner syndrome ? | What causes Parsonage Turner syndrome? The exact cause of Parsonage Turner syndrome (PTS) is unknown. Researchers suspect that most cases are due to an autoimmune response following exposure to an illness or environmental factor. In many cases, no triggering event or underlying cause can be identified. Factors known to trigger PTS include: Infections (both viral and bacterial) Surgery Vaccinations Childbirth Certain medical procedures, such as a spinal tap or imaging studies that require administration of radiologic dye Strenuous exercise Certain medical conditions, including connective tissue disorders and autoimmune disorders Injury Some researchers believe that PTS is a multifactorial condition, which means that it is caused by both environmental and genetic factors. In this case, a person may have a genetic susceptibility to PTS due to one or more genes, but won't develop the condition unless they are exposed to certain environmental triggers (such as those listed above). | |
Is Parsonage Turner syndrome inherited ? | Is Parsonage Turner syndrome inherited? Parsonage Turner syndrome, which is also known as idiopathic neuralgic amyotrophy, is not inherited. However, an inherited form of neuralgic amyotrophy does exist, which is passed down through families in an autosomal dominant manner. For more information on hereditary neuralgic amyotrophy, please click here. | |
How to diagnose Parsonage Turner syndrome ? | How is Parsonage Turner syndrome diagnosed? A diagnosis of Parsonage Turner syndrome (PTS) is often suspected based on the presence of characteristic signs and symptoms. Specialized tests may be recommended to further investigate the shoulder pain and/or muscle weakness and to rule out other conditions that can cause similar features. These tests may include nerve conduction studies (tests that determine the ability of a specific nerve to relay a message to the brain), electromyography, magnetic resonance imaging (MRI scan) and/or an X-ray. | |
What are the treatments for Parsonage Turner syndrome ? | How might Parsonage Turner syndrome be treated? Treatment for Parsonage Turner syndrome (PTS) varies based on the signs and symptoms present in each person. For example, pain medications may be prescribed depending on the severity of the nerve pain. Other techniques for pain management include application of heat or cold and transcutaneous electrical nerve stimulation (a method of pain relief in which a special device transmits low-voltage electrical impulses through electrodes on the skin to an area of the body that is in pain). Many affected people undergo physical therapy and/or occupational therapy to maintain muscle strength and range of motion of affected joints once the pain begins to subside. Surgeries to restore movement and function to the shoulder muscles and joint may be considered if other treatment options are not effective. | |
What are the symptoms of I cell disease ? | What are the signs and symptoms of I cell disease? The Human Phenotype Ontology provides the following list of signs and symptoms for I cell disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the thorax 90% Coarse facial features 90% Cognitive impairment 90% Corneal erosion 90% Hepatomegaly 90% Hernia 90% Hypertrichosis 90% Morphological abnormality of the central nervous system 90% Short stature 90% Splenomegaly 90% Anteverted nares 50% Depressed nasal bridge 50% Epicanthus 50% Lack of skin elasticity 50% Long philtrum 50% Thin skin 50% Abnormality of the heart valves 7.5% Abnormality of the wrist 7.5% Broad alveolar ridges 7.5% Cavernous hemangioma 7.5% Congestive heart failure 7.5% Corneal dystrophy 7.5% Kyphosis 7.5% Recurrent respiratory infections 7.5% Weight loss 7.5% Abnormality of the rib cage - Aortic regurgitation - Atlantoaxial dislocation - Autosomal recessive inheritance - Beaking of vertebral bodies T12-L3 - Bullet-shaped phalanges of the hand - Cardiomegaly - Carpal bone hypoplasia - Death in childhood - Deficiency of N-acetylglucosamine-1-phosphotransferase - Diastasis recti - Failure to thrive - Flared iliac wings - Flat acetabular roof - Heart murmur - High forehead - Hip dislocation - Hoarse voice - Hypertrophic cardiomyopathy - Hypoplasia of the odontoid process - Hypoplastic scapulae - Increased serum beta-hexosaminidase - Increased serum iduronate sulfatase activity - Inguinal hernia - Large sella turcica - Lower thoracic interpediculate narrowness - Macroglossia - Megalocornea - Metaphyseal widening - Mucopolysacchariduria - Myelopathy - Narrow forehead - Neonatal hypotonia - Opacification of the corneal stroma - Osteopenia - Ovoid vertebral bodies - Palpebral edema - Pathologic fracture - Progressive alveolar ridge hypertropy - Protuberant abdomen - Recurrent bronchitis - Recurrent otitis media - Recurrent pneumonia - Severe global developmental delay - Severe postnatal growth retardation - Short long bone - Sparse eyebrow - Split hand - Talipes equinovarus - Thickened calvaria - Thoracolumbar kyphoscoliosis - Umbilical hernia - Varus deformity of humeral neck - Wide intermamillary distance - 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 Penoscrotal transposition ? | What are the signs and symptoms of Penoscrotal transposition? The Human Phenotype Ontology provides the following list of signs and symptoms for Penoscrotal transposition. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absent facial hair - Elevated follicle stimulating hormone - Elevated luteinizing hormone - Female external genitalia in individual with 46,XY karyotype - Growth abnormality - Gynecomastia - Inguinal hernia - Neoplasm - Primary amenorrhea - Sparse axillary hair - Sparse pubic hair - 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 Radio-ulnar synostosis type 2 ? | What are the signs and symptoms of Radio-ulnar synostosis type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Radio-ulnar synostosis type 2. 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 - Dislocated radial head - Limited elbow extension - Radioulnar synostosis - 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) 16q24.3 microdeletion syndrome ? | 16q24.3 microdeletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated q24.3. Signs and symptoms may include developmental delay, characteristic facial features, seizures and autism spectrum disorder. Chromosome testing of both parents can provide more information on whether or not the microdeletion was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a microdeletion. Treatment is based on the signs and symptoms present in each person. To learn more about chromosomal anomalies in general, please visit our GARD webpage on Chromosome Disorders. | |
What are the symptoms of 16q24.3 microdeletion syndrome ? | What are the signs and symptoms of 16q24.3 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 16q24.3 microdeletion 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 pinna 90% Autism 90% High forehead 90% Abnormality of neuronal migration 50% Abnormality of the palate 50% Aplasia/Hypoplasia of the corpus callosum 50% Cognitive impairment 50% Frontal bossing 50% Optic atrophy 50% Pointed chin 50% Seizures 50% Thrombocytopenia 50% Ventriculomegaly 50% Wide mouth 50% Abnormality of the hip bone 7.5% Abnormality of the mitral valve 7.5% Anteverted nares 7.5% Astigmatism 7.5% Cryptorchidism 7.5% Feeding difficulties in infancy 7.5% Hearing impairment 7.5% Highly arched eyebrow 7.5% Hypertrophic cardiomyopathy 7.5% Kyphosis 7.5% Long face 7.5% Long philtrum 7.5% Macrocytic anemia 7.5% Myopia 7.5% Narrow forehead 7.5% Neurological speech impairment 7.5% Nystagmus 7.5% Otitis media 7.5% Preauricular skin tag 7.5% Proximal placement of thumb 7.5% Scoliosis 7.5% Strabismus 7.5% Thick lower lip vermilion 7.5% Triangular face 7.5% Upslanted palpebral fissure 7.5% Ventricular septal defect 7.5% Visual impairment 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 are the symptoms of Erythroderma lethal congenital ? | What are the signs and symptoms of Erythroderma lethal congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Erythroderma lethal congenital. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dry skin 90% Ichthyosis 90% Malabsorption 90% Respiratory insufficiency 90% Urticaria 90% Autosomal recessive inheritance - Congenital exfoliative erythroderma - Death in infancy - Failure to thrive - Hypoalbuminemia - 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 Hunter Rudd Hoffmann syndrome ? | What are the signs and symptoms of Hunter Rudd Hoffmann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hunter Rudd Hoffmann syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal dermatoglyphics 90% Abnormality of the distal phalanx of finger 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Clinodactyly of the 5th finger 90% Cognitive impairment 90% Convex nasal ridge 90% Craniosynostosis 90% Epicanthus 90% Hypotelorism 90% Intrauterine growth retardation 90% Low-set, posteriorly rotated ears 90% Narrow forehead 90% Prominent metopic ridge 90% Ptosis 90% Short stature 90% Trigonocephaly 90% Underdeveloped supraorbital ridges 90% Wide mouth 90% Wide nasal bridge 90% Abnormality of the palate 7.5% EEG abnormality 7.5% Hernia of the abdominal wall 7.5% Proptosis 7.5% Seizures 7.5% Ventricular septal defect 7.5% Broad secondary alveolar ridge - High palate - Inguinal hernia - Intellectual disability - Lambdoidal craniosynostosis - Low-set ears - Posteriorly rotated ears - Premature posterior fontanelle closure - Sagittal craniosynostosis - Small anterior fontanelle - Small for gestational age - 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 Zunich neuroectodermal syndrome ? | What are the signs and symptoms of Zunich neuroectodermal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Zunich neuroectodermal syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal dermatoglyphics 90% Abnormality of calvarial morphology 90% Aplasia/Hypoplasia of the nipples 90% Chorioretinal coloboma 90% Cognitive impairment 90% Depressed nasal ridge 90% Epicanthus 90% External ear malformation 90% Hearing impairment 90% Hypertelorism 90% Ichthyosis 90% Microdontia 90% Ptosis 90% Reduced number of teeth 90% Short philtrum 90% Strabismus 90% Tall stature 90% Thick lower lip vermilion 90% Abnormality of epiphysis morphology 50% Abnormality of the clavicle 50% Abnormality of the pulmonary valve 50% Adactyly 50% Brachydactyly syndrome 50% Cleft palate 50% Increased number of teeth 50% Opacification of the corneal stroma 50% Seizures 50% Short toe 50% Tetralogy of Fallot 50% Transposition of the great arteries 50% Upslanted palpebral fissure 50% Abnormal hair quantity 7.5% Abnormality of the hip bone 7.5% Abnormality of the kidney 7.5% Acute leukemia 7.5% Autism 7.5% Cerebral cortical atrophy 7.5% Clubbing of toes 7.5% Fine hair 7.5% Hyperkeratosis 7.5% Osteolysis 7.5% Skin ulcer 7.5% Ventricular septal defect 7.5% Acute lymphoblastic leukemia - Autosomal recessive inheritance - Brachycephaly - Broad-based gait - Cerebral atrophy - Clinodactyly of the 5th finger - Conductive hearing impairment - Duplicated collecting system - Frontal bossing - Hydronephrosis - Hypoplastic nipples - Intellectual disability - Joint contracture of the hand - Large for gestational age - Large hands - Long foot - Low-set nipples - Muscular hypotonia - Overfolded helix - Palmoplantar hyperkeratosis - Peripheral pulmonary artery stenosis - Prominent forehead - Retinal coloboma - Sparse hair - Ureteropelvic junction obstruction - Violent behavior - Webbed neck - Wide mouth - Wide nasal bridge - Widely spaced teeth - 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 Alopecia intellectual disability syndrome 2 ? | What are the signs and symptoms of Alopecia intellectual disability syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia intellectual disability syndrome 2. 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) Alopecia universalis - Autosomal recessive inheritance - Intellectual disability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Myxopapillary ependymoma ? | Myxopapillary ependymoma (MEPN) is a slow-growing ependymoma (a type of glioma, which is a tumor that arises from the supportive tissue of the brain). They tend to occur in the lower part of the spinal column and are usually considered to be benign, low-grade or grade I tumors. The age of diagnosis ranges from 6 to 82 years. Symptoms of an ependymoma are related to the location and size of the tumor and may include nausea, vomiting, headache, pain, numbness, bowel or bladder symptoms, and various other signs and symptoms. The cause of ependymomas is unknown. They are known to recur locally (more commonly in individuals diagnosed in childhood). Treatment may vary depending on the location, grade, and whether the tumor has spread to the spine, but typically includes aggressive surgery. Management may also include chemotherapy and radiation therapy. | |
What are the treatments for Myxopapillary ependymoma ? | How might myxopapillary ependymoma be treated? Standard treatment of myxopapillary ependymoma is surgery with the aim of removing as much of the tumor as possible. This tumor type may be cured if all of the tumor is removed during surgery, which is referred to as total resection, and there is usually a favorable outlook in these cases. However, surgery is typically less curative in tumors that are large, multifocal or extend outside the spinal cord. These tumors have the potential to regrow after the initial diagnosis and surgery (recur), particularly in individuals diagnosed as children. Following surgery, radiation therapy may be considered to destroy any cancer cells that could remain in the body. The use of chemotherapy as another treatment of myxopapillary ependymoma remains controversial; chemotherapy has been widely used in pediatric individuals due to more aggressive disease. The usefulness of additional therapies following surgery is unclear for the subset of individuals with recurrence or in individuals in whom total resection cannot be achieved. | |
What is (are) Northern epilepsy ? | Northern epilepsy is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 5 and 10 years and may include recurrent seizures, mild intellectual disability, and motor abnormalities (i.e. problems with coordination and balance). Some affected people may also experience decreased visual acuity. Northern epilepsy is caused by changes (mutations) in the CLN8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms. | |
What are the symptoms of Northern epilepsy ? | What are the signs and symptoms of Northern epilepsy? The Human Phenotype Ontology provides the following list of signs and symptoms for Northern epilepsy. 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) Ataxia - Autosomal recessive inheritance - Cerebellar atrophy - Cerebral atrophy - Curvilinear intracellular accumulation of autofluorescent lipopigment storage material - Delayed speech and language development - Developmental regression - EEG abnormality - Increased neuronal autofluorescent lipopigment - Myoclonus - Progressive visual loss - 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) Spondylocostal dysostosis 2 ? | Spondylocostal dysostosis is a group of conditions characterized by abnormal development of the bones in the spine and ribs. In the spine, the vertebrae are misshapen and fused. Many people with this condition have an abnormal side-to-side curvature of the spine (scoliosis). The ribs may be fused together or missing. These bone malformations lead to short, rigid necks and short midsections. Infants with spondylocostal dysostosis have small, narrow chests that cannot fully expand. This can lead to life-threatening breathing problems. Males with this condition are at an increased risk for inguinal hernia, where the diaphragm is pushed down, causing the abdomen to bulge out. There are several types of spondylocostal dysostosis. These types have similar features and are distinguished by their genetic cause and how they are inherited. Spondylocostal dysostosis 2 is caused by mutations in the MESP2 gene. It is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive and may include respiratory support and surgery to correct inguinal hernia and scoliosis. | |
What are the symptoms of Spondylocostal dysostosis 2 ? | What are the signs and symptoms of Spondylocostal dysostosis 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylocostal dysostosis 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of immune system physiology 90% Abnormality of the intervertebral disk 90% Abnormality of the ribs 90% Intrauterine growth retardation 90% Respiratory insufficiency 90% Scoliosis 90% Short neck 90% Short stature 90% Short thorax 90% Vertebral segmentation defect 90% Kyphosis 50% Restrictive respiratory insufficiency 44% Abnormality of female internal genitalia 7.5% Abnormality of the ureter 7.5% Anomalous pulmonary venous return 7.5% Anteverted nares 7.5% Broad forehead 7.5% Camptodactyly of finger 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Congenital diaphragmatic hernia 7.5% Cryptorchidism 7.5% Depressed nasal bridge 7.5% Displacement of the external urethral meatus 7.5% Finger syndactyly 7.5% Long philtrum 7.5% Low-set, posteriorly rotated ears 7.5% Macrocephaly 7.5% Meningocele 7.5% Microcephaly 7.5% Prominent occiput 7.5% Spina bifida occulta 7.5% Umbilical hernia 7.5% Urogenital fistula 7.5% Autosomal recessive inheritance - Disproportionate short-trunk short stature - Recurrent respiratory infections - Rib fusion - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Bladder cancer ? | Bladder cancer is a form of cancer that occurs due to abnormal and uncontrolled cell growth in the bladder. Signs and symptoms of the condition may include abdominal pain, blood in the urine, fatigue, painful urination, frequent urination, incontinence, and/or weightloss. Most cases of bladder cancer occur sporadically in people with no family history of the condition. Risk factors for the condition include smoking, exposure to certain chemicals, and having chronic bladder infections. Treatment varies based on the severity of the condition and may include surgery, radiation therapy, chemotherapy, and/or biological therapy. | |
What are the symptoms of Bladder cancer ? | What are the signs and symptoms of Bladder cancer? The Human Phenotype Ontology provides the following list of signs and symptoms for Bladder cancer. 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 - Transitional cell carcinoma of the bladder - 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) Hereditary sensory neuropathy type IE ? | Hereditary sensory neuropathy type IE (HSNIE) is a progressive disorder of the central and peripheral nervous systems. Symptoms typically begin by age 20 to 35 and include sensory impairment of the lower legs and feet; loss of sweating in the hands and feet; sensorineural hearing loss; and gradual decline of mental ability (dementia). The severity of symptoms and age of onset vary, even within the same family. HSNIE is caused by a mutation in the DNMT1 gene and is inherited in an autosomal dominant manner. There is no effective treatment, but management may include injury prevention, the use of hearing aids, and sedative or antipsychotic medications for symptoms of dementia. | |
What are the symptoms of Hereditary sensory neuropathy type IE ? | What are the signs and symptoms of Hereditary sensory neuropathy type IE? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary sensory neuropathy type IE. 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) Apathy - Autosomal dominant inheritance - Cerebral atrophy - Decreased number of peripheral myelinated nerve fibers - Dementia - Hyporeflexia - Impulsivity - Irritability - Memory impairment - Osteomyelitis - Progressive - Sensorineural hearing impairment - Sensory neuropathy - Somnolence - 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 Hereditary sensory neuropathy type IE inherited ? | How is hereditary sensory neuropathy type IE inherited? Hereditary sensory neuropathy type IE (HSNIE) is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause features of the condition. When a person with a mutation that causes HSNIE has children, each child has a 50% (1/2) chance to inherit the mutated gene. A person who does not inherit the mutation from an affected parent is not at risk to pass the condition on to his/her children. | |
What are the treatments for Hereditary sensory neuropathy type IE ? | How might hereditary sensory neuropathy type IE be treated? There is currently no effective treatment for any type of hereditary sensory neuropathy. Management of symptoms may include: meticulous care of the distal limbs, which includes proper fit of shoes, prevention and treatment of callus formation, cleaning and protection of wounds, and avoidance of trauma to the hands and feet injury prevention when sensory impairment is significant the use of hearing aids and/or assistive communication methods as needed sedative or antipsychotic medications to help reduce the restlessness, roaming behavior, delusions, and hallucinations associated with dementia psychological support for caregivers | |
What are the symptoms of Waardenburg syndrome type 2A ? | What are the signs and symptoms of Waardenburg syndrome type 2A? The Human Phenotype Ontology provides the following list of signs and symptoms for Waardenburg syndrome type 2A. 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) Albinism - Autosomal dominant inheritance - Congenital sensorineural hearing impairment - Heterochromia iridis - Heterogeneous - Hypoplastic iris stroma - Partial albinism - Premature graying of hair - Synophrys - Underdeveloped nasal alae - Variable expressivity - White eyebrow - White eyelashes - White forelock - 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 is (are) Congenital porphyria ? | Congenital erythropoietic porphyria (CEP) is the rarest porphyria and is commonly seen in infancy, although it may begin in adulthood. It is characterized by severe skin photosensitivity that may lead to scarring, blistering, and increased hair growth at the face and back of the hands. Photosensitivity and infection may cause the loss of fingers and facial features. Symptoms of CEP range from mild to severe and may include hypertrichosis, reddish discoloration of the teeth, anemia, and reddish-colored urine. In CEP, there is a defect in the synthesis of heme within the red blood cells of bone marrow. This defect leads to an increase in the buildup and, therefore, waste of porphyrin and its precursors, which leads to the signs and symptoms. Treatment for CEP may include activated charcoal or a bone marrow transplant, which can improve the anemia and future blister or scar formations from photosensitivity. Blood transfusions or spleen removal may also reduce the amount of porphyrin produced from bone marrow. This condition is inherited in an autosomal recessive fashion and is caused by mutations in the UROS gene. | |
What are the symptoms of Congenital porphyria ? | What are the signs and symptoms of Congenital porphyria? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital porphyria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Abnormality of dental color 90% Abnormality of the heme biosynthetic pathway 90% Abnormality of urine homeostasis 90% Cutaneous photosensitivity 90% Hemolytic anemia 90% Hypertrichosis 90% Self-injurious behavior 90% Splenomegaly 90% Abnormality of immune system physiology 50% Recurrent fractures 50% Reduced bone mineral density 50% Thrombocytopenia 7.5% Abnormality of the mouth - Alopecia - Atypical scarring of skin - Autosomal recessive inheritance - Cholelithiasis - Congenital onset - Conjunctivitis - Corneal scarring - Hyperpigmentation of the skin - Hypopigmentation of the skin - Joint contracture of the hand - Loss of eyelashes - Osteolysis - Osteopenia - Pathologic fracture - Scleroderma - Short stature - Thickened skin - 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 are the symptoms of Anemia sideroblastic and spinocerebellar ataxia ? | What are the signs and symptoms of Anemia sideroblastic and spinocerebellar ataxia? The Human Phenotype Ontology provides the following list of signs and symptoms for Anemia sideroblastic and spinocerebellar ataxia. 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% Neurological speech impairment 90% Nystagmus 90% Abnormality of movement 50% Cognitive impairment 50% Hyperreflexia 50% Intrauterine growth retardation 7.5% Muscular hypotonia 7.5% Scoliosis 7.5% Strabismus 7.5% Abnormality of metabolism/homeostasis - Babinski sign - Clonus - Dysarthria - Dysdiadochokinesis - Dysmetria - Hypochromic microcytic anemia - Intention tremor - Juvenile onset - Nonprogressive cerebellar ataxia - Sideroblastic anemia - 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 is (are) Toxocariasis ? | Toxocariasis is a parasitic condition caused by the larvae of two species of Toxocara roundworms: Toxocara canis (from dogs) and Toxocara cati (from cats). Many people who are infected with Toxocara never develop any signs or symptoms of the condition. In those who do become sick, symptoms may present as: Ocular Toxocariasis - when the larvae infect the eye and cause vision loss, eye inflammation, and/or damage to the retina. Visceral Toxocariasis - when the larvae infect various organs of the body (i.e. the liver or the central nervous system) and cause fever, fatigue, coughing, wheezing, and/or abdominal pain. Toxocariasis is generally spread through dirt that has been contaminated with animal feces that contain infectious Toxocara eggs. Young children and owners of dogs and cats have a higher chance of becoming infected. Visceral toxocariasis is treated with antiparasitic medications. Treatment of ocular toxocariasis is more difficult and usually consists of measures to prevent progressive damage to the eye. | |
What is (are) Childhood ovarian cancer ? | Childhood ovarian cancer is a rare type of cancer that occurs due to abnormal and uncontrolled cell growth in the ovaries. The childhood form, specifically, is extremely rare and accounts for less than 5% of all ovarian cancer cases. The most common types of ovarian cancers diagnosed in children and adolescents include germ cell tumors, followed by epithelial tumors, stromal tumors, and then other tumors (such as Burkitt lymphoma and small cell carcinoma of the ovary). Many people with early ovarian cancer have no signs or symptoms of the condition. When present, symptoms may include painful menstrual periods; an abdominal lump; pain or swelling in the abdomen; having male sex traits (i.e. body hair or a deep voice); and/or early signs of puberty. The underlying cause of childhood ovarian cancer is often unknown. Certain inherited conditions, such as Ollier disease, Maffucci syndrome and Peutz-Jeghers syndrome are associated with an increased risk of developing childhood ovarian cancer. Treatment varies based on many factors including the type of ovarian tumor and the severity of the condition. It may include surgery, radiation therapy, and/or chemotherapy. | |
What are the symptoms of Multiple epiphyseal dysplasia 3 ? | What are the signs and symptoms of Multiple epiphyseal dysplasia 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple epiphyseal dysplasia 3. 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 hip joint - Autosomal dominant inheritance - Delayed epiphyseal ossification - Elevated serum creatine phosphokinase - Epiphyseal dysplasia - Irregular epiphyses - Mild short stature - Osteoarthritis - Proximal muscle weakness - Short metacarpal - Small epiphyses - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Macular dystrophy, corneal type 1 ? | What are the signs and symptoms of Macular dystrophy, corneal type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Macular dystrophy, corneal type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Corneal dystrophy - Juvenile onset - Macular dystrophy - Photophobia - Punctate opacification of the cornea - Recurrent corneal erosions - 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 Beukes familial hip dysplasia ? | What are the signs and symptoms of Beukes familial hip dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Beukes familial hip dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of bone mineral density 90% Osteoarthritis 90% Kyphosis 7.5% Scoliosis 7.5% Autosomal dominant inheritance - Avascular necrosis of the capital femoral epiphysis - Broad femoral neck - Childhood onset - Flat capital femoral epiphysis - Hip dysplasia - Irregular capital femoral epiphysis - Shallow acetabular fossae - Wide proximal femoral metaphysis - 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) Sotos syndrome ? | Sotos syndrome is a condition characterized mainly by distinctive facial features; overgrowth in childhood; and learning disabilities or delayed development. Facial features may include a long, narrow face; a high forehead; flushed (reddened) cheeks; a small, pointed chin; and down-slanting palpebral fissures. Affected infants and children tend to grow quickly; they are significantly taller than their siblings and peers and have a large head. Other signs and symptoms may include intellectual disability; behavioral problems; problems with speech and language; and/or weak muscle tone (hypotonia). Sotos syndrome is usually caused by a mutation in the NSD1 gene and is inherited in an autosomal dominant manner. About 95% of cases are due to a new mutation in the affected person and occur sporadically (are not inherited). | |
What are the symptoms of Sotos syndrome ? | What are the signs and symptoms of Sotos syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sotos 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) Accelerated skeletal maturation 90% Cognitive impairment 90% Depressed nasal ridge 90% Frontal bossing 90% High forehead 90% Hypertelorism 90% Macrocephaly 90% Macrotia 90% Mandibular prognathia 90% Tall stature 90% Advanced eruption of teeth 50% Anteverted nares 50% Conductive hearing impairment 50% Dolichocephaly 50% Hypoglycemia 50% Obesity 50% Precocious puberty 50% Abnormality of the fingernails 7.5% Abnormality of the hip bone 7.5% Abnormality of the ureter 7.5% Behavioral abnormality 7.5% Coarse facial features 7.5% Craniosynostosis 7.5% Cryptorchidism 7.5% Displacement of the external urethral meatus 7.5% EEG abnormality 7.5% Genu valgum 7.5% Genu varum 7.5% Hyperreflexia 7.5% Neoplasm of the nervous system 7.5% Patent ductus arteriosus 7.5% Polycystic kidney dysplasia 7.5% Presacral teratoma 7.5% Scoliosis 7.5% Seizures 7.5% Strabismus 7.5% Abnormal glucose tolerance - Atria septal defect - Autosomal dominant inheritance - Cavum septum pellucidum - Enlarged cisterna magna - Expressive language delay - High anterior hairline - High palate - Hypermetropia - Intellectual disability - Joint laxity - Large hands - Long foot - Narrow palate - Neonatal hypotonia - Nephroblastoma (Wilms tumor) - Nystagmus - Otitis media - Partial agenesis of the corpus callosum - Pes planus - Pointed chin - Poor coordination - Small nail - Sporadic - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
Is Sotos syndrome inherited ? | How is Sotos syndrome inherited? Sotos syndrome is inherited in an autosomal dominant manner. This means that having a mutation in only one of the 2 copies of the responsible gene (the NSD1 gene) is enough to cause signs and symptoms of the condition. 95% of people with Sotos syndrome do not inherit the condition from a parent. In these cases, the condition is the result of a new (de novo) mutation that occurred for the first time in the affected person. Only about 5% of people with Sotos syndrome have an affected parent and inherit the condition from that parent. If a parent of an affected person with an identified NSD1 mutation does not have any features of Sotos syndrome, that parent is very unlikely to have a mutation in the gene. This can be confirmed with genetic testing if the mutation has been identified in the child. If a person with Sotos syndrome has children, each child has a 50% (1 in 2) chance to inherit the mutation. However, the specific features and severity can vary from one generation to the next, so it is not possible to predict how a child will be affected. | |
What are the symptoms of Spastic paraplegia 51 ? | What are the signs and symptoms of Spastic paraplegia 51? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 51. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Babinski sign - Bulbous nose - Cerebellar atrophy - Cerebral cortical atrophy - Coarse facial features - Congenital onset - Decreased muscle mass - Drooling - Facial hypotonia - Flexion contracture - Hyperreflexia - Intellectual disability, severe - Long nose - Microcephaly - Narrow face - Narrow forehead - Neonatal hypotonia - Nystagmus - Pointed chin - Prominent antihelix - Seizures - Short philtrum - Short stature - Spastic paraplegia - Spastic tetraplegia - Talipes equinovarus - Ventriculomegaly - Wide mouth - 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 symptoms of Duodenal atresia ? | What are the signs and symptoms of Duodenal atresia? The Human Phenotype Ontology provides the following list of signs and symptoms for Duodenal atresia. 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) Duodenal stenosis 90% Polyhydramnios 90% Abnormality of the pancreas 7.5% Abnormality of the pulmonary artery 7.5% Autosomal recessive inheritance - Duodenal 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) Hepatic lipase deficiency ? | Hepatic lipase deficiency is a rare condition that is characterized by increased levels of certain fats (known as triglycerides and cholesterol) in the blood. Affected people may also have increased levels of high-density lipoproteins (HDLs) and decreased levels of low-density lipoproteins (LDLs), which are two molecules that help transport fats throughout the body. Hepatic lipase deficiency may be associated with an increased risk of developing atherosclerosis and/or heart disease; however, additional research is needed on the long-term outlook of people with this condition. Hepatic lipase deficiency is caused by changes (mutations) in the LIPC gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person. | |
What are the symptoms of Hepatic lipase deficiency ? | What are the signs and symptoms of Hepatic lipase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Hepatic lipase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Angina pectoris - Autosomal recessive inheritance - Eruptive xanthomas - 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) Fuchs endothelial corneal dystrophy ? | Fuchs endothelial corneal dystrophy (FECD) is an eye disease. It affects the thin layer of cells that line the back part of the cornea. This layer is called the endothelium. The disease occurs when these cells slowly start to die off. The cells help pump excess fluid out of the cornea. As more and more cells are lost, fluid begins to build up in the cornea, causing swelling and a cloudy cornea. There are several forms of the disease according to the age of onset of the symptoms and the cause. The early-onset form is very rare and is known as Fuchs endothelial corneal dystrophy 1 (or early-onset Fuchs endothelial corneal dystrophy) and it is caused by a change (mutation) in the COL8A2 gene. Late-onset Fuchs endothelial corneal dystrophies are common and include: Fuchs endothelial corneal dystrophy 2 (caused by a mutation in an unknown gene located in chromosome 13) Fuchs endothelial corneal dystrophy 3 (may be caused by TCF4 gene mutations) Fuchs endothelial corneal dystrophy 4 (caused by a mutation in the SLC4A11 gene) Fuchs endothelial corneal dystrophy 5 (caused by a mutation in an unknown gene located in chromosome 15) Fuchs endothelial corneal dystrophy 6 (caused by a mutation in the ZEB1 gene) Fuchs endothelial corneal dystrophy 7 (caused by a mutation in an unknown gene located in chromosome 9) Fuchs endothelial corneal dystrophy 8 (caused by heterozygous mutation in the AGBL1 gene). Early in the disease, patients typically do not have symptoms. In the late-onset forms, the symptoms start around 50 or 60 years and include discomfort and painful episodes of recurrent corneal wounds and hazy vision. Over time, discomfort may diminish but severe impairment of visual acuity, and even blindness and cataracts in elderly patients, may be observed. Once the vision has worsened, the recommended treatment is a penetrating graft which has excellent results in most cases. | |
Is Fuchs endothelial corneal dystrophy inherited ? | How is Fuchs endothelial corneal dystrophy inherited? The inheritance of Fuchs dystrophy is not straight forward. In some cases, Fuchs dystrophy appears to be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. When this condition is caused by a mutation in the COL8A2 gene (which is the early-onset form of the disease), it is inherited in an autosomal dominant pattern. In addition, an autosomal dominant inheritance pattern is seen in some situations in which the condition is caused by changes in an unknown gene. However, in many cases, the inheritance pattern is unknown. Some cases result from new mutations in a gene and occur in people with no history of the disorder in their family. Due to the complex nature of the inheritance of this condition, we strongly recommend you discuss your concerns with a genetics professional. | |
What are the symptoms of Spinocerebellar ataxia 21 ? | What are the signs and symptoms of Spinocerebellar ataxia 21? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 21. 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) Nystagmus 5% Aggressive behavior - Akinesia - Apathy - Autosomal dominant inheritance - Cerebellar atrophy - Cognitive impairment - Cogwheel rigidity - Dysarthria - Dysgraphia - Gait ataxia - Hyporeflexia - Impulsivity - Intellectual disability - Limb ataxia - Microsaccadic pursuit - Parkinsonism - Postural tremor - Progressive cerebellar ataxia - Scanning speech - Slow progression - Slow saccadic eye movements - 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) Hereditary angioedema ? | Hereditary angioedema (HAE) is an immune disorder characterized by recurrent episodes of severe swelling. The most commonly affected areas of the body are the limbs, face, intestinal tract, and airway. HAE is caused by low levels or improper function of a protein called C1 inhibitor which affects the blood vessels. This condition is inherited in an autosomal dominant pattern. | |
What are the symptoms of Hereditary angioedema ? | What are the signs and symptoms of Hereditary angioedema? Hereditary angioedema is characterized by recurrent episodes of severe swelling (angioedema). The most commonly involved areas of the body are the limbs, face, intestinal tract, and airway. While minor trauma or stress may trigger an attack, swelling often occurs without a known trigger. Episodes involving the intestinal tract cause severe abdominal pain, nausea, and vomiting. Swelling in the airway can restrict breathing and lead to life-threatening obstruction of the airway. About one-third of people with this condition develop a non-itchy rash called erythema marginatum during an attack. Symptoms of hereditary angioedema typically begin in childhood and worsen during puberty. Untreated individuals may have an attack every 1 to 2 weeks. Most episodes last 3 to 4 days. The frequency and duration of attacks vary greatly among individuals with hereditary angioedema, even among those in the same family. The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary angioedema. 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) Edema 90% Urticaria 90% Abdominal pain 7.5% Ascites 7.5% Immunologic hypersensitivity 7.5% Intestinal obstruction 7.5% Abnormality of the larynx - Angioedema - Autoimmunity - Autosomal dominant inheritance - Diarrhea - Erythema - Intestinal edema - Laryngeal edema - Peripheral axonal neuropathy - Pharyngeal edema - 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 Hereditary angioedema ? | How might hereditary angioedema be treated? Medical treatment of hereditary angioedema (HAE) consists of preventing attacks and managing acute attacks once they occur. During attacks, patients may require respiratory support. They also may require large amounts of intravenous fluids to maintain hemodynamic stability. Until recently, no effective agent for acute attacks existed in the United States. Now, however, several agents have been approved, and others are in the midst of the U.S. Food and Drug Administration (FDA) approval process. In October 2008, the US FDA approved the use of C1-INH (Cinryze) for prophylaxis to prevent attacks. In October 2009, the FDA approved C1-INH (Berinert) for the treatment of acute abdominal and facial angioedema attacks in adolescents and adults with HAE.In December 2009, ecallantide (Kalbitor), a kallikrein inhibitor, was approved for the treatment of acute attacks. In August 2011, the FDA approved Firazyr (icatibant) Injection for the treatment of acute attacks in people ages 18 years and older. Firazyr can be self-administered through an injection in the abdominal area so patients can treat themselves when they realize they are having an HAE attack. An article from the eMedicine Journal provides more detailed information on these medications and other methods of treating HAE at the following link. You may need to register to view the article, but registration is free. http://emedicine.medscape.com/article/135604-treatment The US Hereditary Angioedema Association also provides additional information about treatment of HAE. http://www.haea.org/treating-hae/treatments/ Orphanet, a database dedicated to information on rare diseases and orphan drugs, provides guidelines regarding emergency management of hereditary angioedema at the following link. http://www.orpha.net/consor/cgi-bin/Disease_Emergency.php?lng=EN&stapage=FICHE_URGENCE_A1 | |
What is (are) Progressive transformation of germinal centers ? | Progressive transformation of germinal centers is a condition in which a lymph node becomes very enlarged (lymphadenopathy). Typically, only one lymph node is affected, though PTGC can involve multiple lymph nodes. The neck is the most common location of affected lymph nodes, but PTGC may also affect lymph nodes in the groin and armpits. Adults are more frequently affected than children, but children have a higher chance of developing PTGC multiple times (recurrence). PTGC is not considered a precancerous condition, though it has been associated with Hodgkin lymphoma. |
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