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What causes Progressive deafness with stapes fixation ? | What causes deafness, progressive with stapes fixation? The exact cause of deafness, progressive with stapes fixation depends on whether it is associated with an underlying condition or infection. Isolated cases may be inherited. Autosomal dominant, autosomal recessive, and X-linked cases have been reported. In some cases, no underlying cause can be identified. | |
What are the treatments for Progressive deafness with stapes fixation ? | How might deafness, progressive with stapes fixation be treated? Treatment for deafness, progressive with stapes fixation typically involves surgery. The conductive component of the hearing loss can be restored by surgery or hearing aids. The associated sensorineural component is managed by hearing aids or cochlear implants, depending on its severity. Stapedotomy (a procedure where a laser is used to make a hole in the stapes) or partial stapedectomy (removal of the stapes) with stapes replacement using a prostheses most commonly achieves satisfactory results with minimal complications. | |
What is (are) Kimura disease ? | Kimura disease is a rare, benign, chronic disorder that causes inflammation of tissue (nodules) under the skin of the head or neck. These nodules tend to recur despite treatment. The cause of this condition is unknown, but may be due to an immune response. | |
What are the treatments for Kimura disease ? | How might Kimura disease be treated? For individuals with symptoms caused by Kimura disease, surgery to remove the nodules is the treatment of choice; however, the nodules often reappear after surgery. Steroids (such as prednisone), taken by mouth or via an injection in the skin, can shrink the nodules but rarely result in a cure. Other, less common, treatments include oral pentoxifylline, medication that supresses the immune system (such as cyclosporine), radiotherapy, and a combination of all trans-retinoic acid and prednisone. It is important to consult with your healthcare provider before taking any medication. | |
What is (are) Chondrodysplasia punctata 2 X-linked dominant ? | X-linked dominant chondrodysplasia punctata (CDPX2), also known as Conradi-Hnermann-Happle syndrome, is a rare form of skeletal dysplasia characterized by skeletal malformations, skin abnormalities, cataracts and short stature. The specific symptoms and severity of the disorder may vary greatly from one individual to another. CDPX2 is caused by mutations in the emopamil binding protein gene, EBP. In many cases, this mutation occurs randomly, for no apparent reason (i.e., new mutation). The condition is inherited as an X-linked dominant trait and occurs almost exclusively in females. Treatment of CDPX2 is directed toward the specific symptoms that present in each individual. Such treatment may require the coordinated efforts of a team of medical professionals, including physicians who diagnose and treat disorders of the skeleton, joints, muscles, and related tissues (orthopedists); skin specialists (dermatologists); eye specialists; and/or other health care professionals. | |
What are the symptoms of Chondrodysplasia punctata 2 X-linked dominant ? | What are the signs and symptoms of Chondrodysplasia punctata 2 X-linked dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrodysplasia punctata 2 X-linked dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormal joint morphology 90% Abnormality of the fingernails 90% Asymmetric growth 90% Epicanthus 90% Ichthyosis 90% Kyphosis 90% Ptosis 90% Short stature 90% Optic atrophy 50% Abnormal form of the vertebral bodies 7.5% Abnormality of hair texture 7.5% Abnormality of the hip bone 7.5% Abnormality of the teeth 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the skin 7.5% Cataract 7.5% Clinodactyly of the 5th finger 7.5% Foot polydactyly 7.5% Frontal bossing 7.5% Hypoplasia of the zygomatic bone 7.5% Limb undergrowth 7.5% Malar flattening 7.5% Microcornea 7.5% Sensorineural hearing impairment 7.5% Talipes 7.5% Postaxial polydactyly 5% Abnormality of pelvic girdle bone morphology - Abnormality of the pinna - Abnormality of the thorax - Alopecia - Bilateral talipes equinovarus - Concave nasal ridge - Congenital ichthyosiform erythroderma - Congenital onset - Dandy-Walker malformation - Edema - Elevated 8(9)-cholestenol - Elevated 8-dehydrocholesterol - Epiphyseal stippling - Erythroderma - Failure to thrive - Flat face - Glaucoma - Hearing impairment - Hemiatrophy - Hemivertebrae - Hydronephrosis - Intellectual disability, moderate - Microphthalmia - Nystagmus - Patellar dislocation - Polyhydramnios - Postnatal growth retardation - Punctate vertebral calcifications - Scoliosis - Short neck - Sparse eyebrow - Sparse eyelashes - Stippled calcification in carpal bones - Tarsal stippling - Tracheal calcification - Tracheal stenosis - Variable expressivity - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Arthrogryposis like disorder ? | What are the signs and symptoms of Arthrogryposis like disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Arthrogryposis like disorder. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Gait disturbance 90% Limitation of joint mobility 90% Patellar aplasia 90% Talipes 50% Abnormal form of the vertebral bodies 7.5% Abnormality of the clavicle 7.5% Aplasia/Hypoplasia of the radius 7.5% Melanocytic nevus 7.5% Scoliosis 7.5% Autosomal recessive inheritance - Skeletal muscle atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Cataract congenital Volkmann type ? | What are the signs and symptoms of Cataract congenital Volkmann type? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract congenital Volkmann 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) Nuclear cataract 41/41 Autosomal dominant inheritance - Congenital cataract - Progressive visual loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Dwarfism, proportionate with hip dislocation ? | What are the signs and symptoms of Dwarfism, proportionate with hip dislocation? The Human Phenotype Ontology provides the following list of signs and symptoms for Dwarfism, proportionate with hip dislocation. 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 - Hip dislocation - Severe 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 Amelogenesis imperfecta nephrocalcinosis ? | What are the signs and symptoms of Amelogenesis imperfecta nephrocalcinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Amelogenesis imperfecta nephrocalcinosis. 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 calcium-phosphate metabolism 90% Abnormality of dental color 90% Abnormality of dental enamel 90% Delayed eruption of teeth 90% Nephropathy 90% Amelogenesis imperfecta - Autosomal recessive inheritance - Dagger-shaped pulp calcifications - Delayed eruption of permanent teeth - Enuresis - Gingival overgrowth - Impaired renal concentrating ability - Nephrocalcinosis - Overgrowth - Polyuria - Renal insufficiency - 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) Fragile X syndrome ? | Fragile X syndrome is a genetic condition involving changes in part of the X chromosome. This condition causes a range of developmental problems including learning disabilities and cognitive impairment. It is the most common form of inherited intellectual disability in males and a significant cause of intellectual disability in females. Other signs and symptoms may include symptoms of autism spectrum disorders, seizures, and characteristic physical features. Fragile X syndrome is caused by a change (mutation) in the FMR1 gene and is inherited in an X-linked dominant manner. | |
What are the symptoms of Fragile X syndrome ? | What are the signs and symptoms of Fragile X syndrome? Fragile X syndrome is characterized by developmental problems including intellectual disability and delayed speech and language development. Males are usually more severely affected than females. Additional features may include anxiety; attention deficit disorder (ADD); features of autism spectrum disorders that affect communication and social interaction; and seizures. Most males and some females with fragile X syndrome have characteristic physical features that become more apparent with age. These features may include a long and narrow face; large ears; a prominent jaw and forehead; unusually flexible fingers; flat feet; and in males, enlarged testicles (macroorchidism) after puberty. The Human Phenotype Ontology provides the following list of signs and symptoms for Fragile X syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Joint hypermobility 90% Macroorchidism 90% Neurological speech impairment 90% Otitis media 90% Pes planus 90% Abnormality of the pinna 50% Attention deficit hyperactivity disorder 50% Frontal bossing 50% Intellectual disability, moderate 50% Long face 50% Macrocephaly 50% Mandibular prognathia 50% Muscular hypotonia 50% Narrow face 50% Sinusitis 50% Abnormality of the mitral valve 7.5% Autism 7.5% Cerebral cortical atrophy 7.5% Dilatation of the ascending aorta 7.5% Seizures 7.5% Self-injurious behavior 7.5% Strabismus 7.5% Abnormal head movements - Coarse facial features - Congenital macroorchidism - Folate-dependent fragile site at Xq28 - Hyperactivity - Incomplete penetrance - Joint laxity - Large forehead - Macroorchidism, postpubertal - Macrotia - Mitral valve prolapse - Pectus excavatum - Periventricular gray matter heterotopia - Poor eye contact - Scoliosis - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What causes Fragile X syndrome ? | What causes fragile X syndrome? Mutations (changes) in the FMR1 gene cause fragile X syndrome (FXS). This gene carries instructions to make a protein called the fragile X mental retardation 1 protein. The FMR1 gene contains a section of DNA called a CGG triplet repeat, which normally repeats from 5 to around 40 times. In most cases of FXS, this section of DNA is repeated more than 200 times, which "turns off" the FMR1 gene and disrupts the function of the nervous system. In a small portion of cases, other types of changes in the FMR1 gene cause FXS. These changes may involve a deletion of all or part of the gene, or a change in the building blocks (amino acids) used to make the gene's protein. People with 55 to 200 repeats of the CGG segment are said to have an FMR1 premutation. Most people with a premutation are intellectually normal. In some cases, people with a premutation have lower levels of the gene's protein and may have some mild symptoms of FXS. About 20% of women with a premutation have premature ovarian failure, and some people with a premutation have an increased risk of developing fragile X-associated tremor/ataxia syndrome (FXTAS). | |
Is Fragile X syndrome inherited ? | How is fragile X syndrome inherited? Fragile X syndrome (FXS) is inherited in an X-linked dominant manner. A condition is X-linked if the responsible gene is located on the X chromosome. The inheritance is dominant if having only one changed (mutated) copy of the responsible gene is enough to cause symptoms of the condition. In women who carry an FMR1 gene premutation (approximately 55 to 200 CGG repeats), the repeats can expand to more than 200 repeats in their cells that develop into eggs. This means that women with a premutation (or a full mutation) have an increased risk to have a child with FXS. The size of the risk corresponds to the number of CGG repeats they have. By contrast, men with premutations are not at risk for the repeats expanding to over 200 when passing the gene to offspring. However, men with a premutation will pass the premutation on to all of their daughters and none of their sons. This is because boys receive only a Y chromosome from their fathers. | |
How to diagnose Fragile X syndrome ? | Is genetic testing available for fragile X syndrome? Yes, genetic testing is available for fragile X syndrome. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if the diagnosis of an FMR1-related disorder (including fragile X syndrome) has been confirmed in a family member. The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for fragile X syndrome. The intended audience for the GTR is health care providers and researchers. People with questions about genetic testing should speak with a health care provider or genetics professional. | |
What are the treatments for Fragile X syndrome ? | How might fragile X syndrome be treated? There is no specific treatment available for fragile X syndrome. Management of this condition is generally supportive and may include: recognizing the need for special education and avoiding excessive stimulation, which may help with behavioral problems early educational intervention and special education that is tailored to specific learning difficulties; small class size, individual attention and avoidance of sudden change is often needed medications for behavioral issues that affect social interaction routine medical management of strabismus, ear infections, reflux, seizures, mitral valve prolapse, and/or high blood pressure. | |
What is (are) Kluver Bucy syndrome ? | Kluver Bucy syndrome is a rare behavioral impairment characterized by inappropriate sexual behaviors and mouthing of objects. Other signs and symptoms, include a diminished ability to visually recognize objects, loss of normal fear and anger responses, memory loss, distractibility, seizures, and dementia. It is associated with damage to the anterior temporal lobes of the brain. Cases have been reported in association with herpes encephalitis and head trauma. Treatment is symptomatic and may include the use of psychotropic medications. | |
What are the symptoms of Bardet-Biedl syndrome 9 ? | What are the signs and symptoms of Bardet-Biedl syndrome 9? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 9. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the kidney 95% Micropenis 88% Myopia 75% Astigmatism 63% Cataract 30% Glaucoma 22% Rod-cone dystrophy 8% Abnormality of the ovary 7.5% Hearing impairment 7.5% Macrocephaly 7.5% Vaginal atresia 7.5% Aganglionic megacolon 5% Asthma - Ataxia - Autosomal recessive inheritance - Biliary tract abnormality - Brachydactyly syndrome - Broad foot - Congenital primary aphakia - Decreased testicular size - Delayed speech and language development - Dental crowding - Diabetes mellitus - Foot polydactyly - Gait imbalance - Hepatic fibrosis - High palate - Hirsutism - Hypertension - Hypodontia - Hypogonadism - Intellectual disability - Left ventricular hypertrophy - Nephrogenic diabetes insipidus - Neurological speech impairment - Nystagmus - Obesity - Poor coordination - Postaxial hand polydactyly - Radial deviation of finger - Retinal degeneration - Short foot - Specific learning disability - Strabismus - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Fanconi Bickel syndrome ? | Fanconi Bickel syndrome (FBS) is a rare glycogen storage disease characterized by glycogen accumulation in the liver and kidneys; severe renal tubular dysfunction; and impaired glucose and galactose metabolism. Signs and symptoms begin in the first few months of life and include failure to thrive, excessive urination (polyuria) and rickets, followed by short stature and hepatosplenomegaly in early childhood. Puberty is delayed. FBS is inherited in an autosomal recessive manner and is caused by mutations in the SLC2A2 gene. Treatment is generally symptomatic. | |
What are the symptoms of Fanconi Bickel syndrome ? | What are the signs and symptoms of Fanconi Bickel syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fanconi Bickel 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) Abdominal distention - Autosomal recessive inheritance - Chronic acidosis - Decreased subcutaneous fat - Elevated alkaline phosphatase - Failure to thrive - Generalized aminoaciduria - Glycosuria - Hyperphosphaturia - Hypokalemia - Hypophosphatemia - Hypouricemia - Impairment of galactose metabolism - Malabsorption - Osteomalacia - Poor appetite - Renal tubular dysfunction - 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 Fanconi Bickel syndrome ? | How might Fanconi Bickel syndrome be treated? Management of Fanconi Bickel syndrome (FBS) generally focuses on the signs and symptoms of the condition. Treatment includes replacement of water and electrolytes, and vitamin D and phosphate supplements for prevention of hypophosphatemic rickets. Although there is limited data on the effectiveness of dietary treatment for this condition, it is recommended that affected individuals follow a galactose-restricted diabetic diet, with fructose as the main source of carbohydrate. Diet and supplements may alleviate some of the signs and symptoms of the condition but generally do not improve growth, resulting in short stature in adulthood. | |
What are the symptoms of Epiphyseal dysplasia multiple with early-onset diabetes mellitus ? | What are the signs and symptoms of Epiphyseal dysplasia multiple with early-onset diabetes mellitus? The Human Phenotype Ontology provides the following list of signs and symptoms for Epiphyseal dysplasia multiple with early-onset diabetes mellitus. 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 metaphyses 90% Short stature 90% Type II diabetes mellitus 90% Abnormality of immune system physiology 50% Abnormality of neutrophils 50% Acute hepatic failure 50% Brachydactyly syndrome 50% Chronic hepatic failure 50% Cognitive impairment 50% Delayed skeletal maturation 50% Elevated hepatic transaminases 50% Gait disturbance 50% Genu valgum 50% Hepatomegaly 50% Platyspondyly 50% Short thorax 50% Abnormality of neuronal migration 7.5% Aplasia/Hypoplasia of the pancreas 7.5% Exocrine pancreatic insufficiency 7.5% Hyperlordosis 7.5% Hypoglycemia 7.5% Hypothyroidism 7.5% Intrauterine growth retardation 7.5% Kyphosis 7.5% Microcephaly 7.5% Nephropathy 7.5% Recurrent fractures 7.5% Renal insufficiency 7.5% Seizures 7.5% Autosomal recessive inheritance - Barrel-shaped chest - Carpal bone hypoplasia - Cone-shaped epiphyses of the phalanges of the hand - Coxa valga - Depressed nasal bridge - Epiphyseal dysplasia - Flattened epiphysis - High palate - Hip dislocation - Hip Subluxation - Hypertelorism - Hypertonia - Hypoplasia of the odontoid process - Infantile onset - Insulin-resistant diabetes mellitus - Irregular carpal bones - Irregular tarsal ossification - Irregular vertebral endplates - Ivory epiphyses of the phalanges of the hand - Ivory epiphyses of the toes - Multiple epiphyseal dysplasia - Narrow iliac wings - Osteoporosis - Preauricular pit - Reduced pancreatic beta cells - Shortening of all middle phalanges of the fingers - Small epiphyses - Upslanted palpebral fissure - 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) Aicardi-Goutieres syndrome type 3 ? | Aicardi-Goutieres syndrome is an inherited condition that mainly affects the brain, immune system, and skin. It is characterized by early-onset severe brain dysfunction (encephalopathy) that usually results in severe intellectual and physical disability. Additional symptoms may include epilepsy, painful, itchy skin lesion (chilblains), vision problems, and joint stiffness. Symptoms usually progress over several months before the disease course stabilizes. There are six different types of Aicardi-Goutieres syndrome, which are distinguished by the gene that causes the condition: TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR genes. Most cases are inherited in an autosomal recessive pattern, although rare autosomal dominant cases have been reported. Treatment is symptomatic and supportive. | |
What are the symptoms of Aicardi-Goutieres syndrome type 3 ? | What are the signs and symptoms of Aicardi-Goutieres syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Aicardi-Goutieres syndrome type 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) Autosomal recessive inheritance - Cerebral calcification - CSF lymphocytic pleiocytosis - Death in childhood - Delayed myelination - Dystonia - Elevated hepatic transaminases - Encephalopathy - Hepatosplenomegaly - Hyperreflexia - Hypoplasia of the corpus callosum - Muscular hypotonia - Nystagmus - Progressive microcephaly - Severe global developmental delay - Spasticity - Thrombocytopenia - 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) Nonbullous congenital ichthyosiform erythroderma ? | Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a specific type of ichthyosis mainly affecting the skin. Most infants with NBCIE are born with a tight, shiny covering on their skin, called a collodion membrane, which is typically shed within a few weeks. Other signs and symptoms include redness of the skin (erythroderma); fine, white scales on the skin; and thickening of the skin on the palms and soles of feet (palmoplantar keratoderma). Some people with NBCIE also have outward turning eyelids (ectropion); outward turning lips (eclabium); and nails that do not grow normally (nail dystrophy). NBCIE may be caused by mutations in any one of at least three genes: ALOX12B, ALOXE3 or NIPAL4. In some people with NBCIE, the cause of the disorder is unknown. | |
What are the symptoms of Nonbullous congenital ichthyosiform erythroderma ? | What are the signs and symptoms of Nonbullous congenital ichthyosiform erythroderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Nonbullous congenital ichthyosiform erythroderma. 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) Hypohidrosis 90% Ectropion 5% Short finger 5% Short toe 5% Small nail 5% Thin nail 5% Abnormality of the hair - Autosomal recessive inheritance - Congenital ichthyosiform erythroderma - Congenital nonbullous ichthyosiform erythroderma - External genital hypoplasia - Growth delay - Intellectual disability - Palmoplantar keratoderma - Paralysis - 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 Nonbullous congenital ichthyosiform erythroderma ? | How might nonbullous congenital ichthyosiform erythroderma be treated? There is currently no cure for nonbullous congenital ichthyosiform erythroderma (NBCIE). Treatment generally focuses on managing the specific signs and symptoms each individual has. For newborns, the most important goals are to provide a moist environment in an isolette, and to prevent and treat infections. Petrolatum-based creams and ointments are typically used to keep the skin soft and hydrated. As children age, keratolytic agents (agents that help the skin loosen and shed) such as alpha-hydroxy acid or urea preparations can be used to promote the peeling and thinning of the outer layer of the skin. For individuals with severe skin involvement, oral retinoid therapy may be recommended. However, because this is known to cause abnormalities in a developing fetus, it should be used with caution in women of child-bearing age. In general, any agents that irritate the skin should be avoided. Ectropion (turning out of the eyelid) can cause dryness of the cornea (especially at night), so artificial tears or prescription ointments may be used to keep the cornea moist. ClinicalTrials.gov provides access to information on clinical studies (including therapies) for different types of ichthyosis. To view a list of the studies currently listed, click here. | |
What are the symptoms of Glomus tympanicum tumor ? | What are the signs and symptoms of Glomus tympanicum tumor? The Human Phenotype Ontology provides the following list of signs and symptoms for Glomus tympanicum tumor. 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) Adrenal pheochromocytoma - Adult onset - Anxiety (with pheochromocytoma) - Autosomal dominant inheritance - Chemodectoma - Conductive hearing impairment - Diaphoresis (with pheochromocytoma) - Elevated circulating catecholamine level - Extraadrenal pheochromocytoma - Glomus jugular tumor - Glomus tympanicum paraganglioma - Headache (with pheochromocytoma) - Hoarse voice (caused by tumor impingement) - Hyperhidrosis - Hypertension associated with pheochromocytoma - Loss of voice - Palpitations - Palpitations (with pheochromocytoma) - Paraganglioma-related cranial nerve palsy - Pulsatile tinnitus (tympanic paraganglioma) - Tachycardia - Tachycardia (with pheochromocytoma) - Vagal paraganglioma - Vocal cord paralysis (caused by tumor impingement) - 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) Lymphomatoid papulosis ? | Lymphomatoid papulosis is a skin disorder that is characterized by crops of self healing skin lesions that look cancerous under the microscope but are actually benign (non-cancerous). Lesions contain unusual cells that are similar to those found in some lymphomas (cancers of the lymphatic system). | |
What are the symptoms of Lymphomatoid papulosis ? | What are the early signs of lymphomatoid papulosis? Patients may present with multiple skin papules (raised bumps) that can occur anywhere on the body but most often on the chest, stomach, back, arms, and legs. The papules appear in crops and may be mildly itchy. They may develop into blood or pus-filled blisters that break and form a crusty sore before healing completely. Lesions tend to spontaneously heal with or without scarring within 2-8 weeks of appearing. | |
What causes Lymphomatoid papulosis ? | What causes lymphomatoid papulosis? The cause of lymphomatoid papulosis is unknown, but it is associated with a proliferation of atypical T-cells. T-cells are specific white blood cells involved in immune responses. | |
What are the treatments for Lymphomatoid papulosis ? | How might lymphomatoid papulosis be treated? Localized mildly itchy skin lesions may be treated with mid- to high-potency topical steroids to hasten healing, or with more aggressive topical therapies (e.g.,phototherapy) to suppress the disease and the possibility of progression to lymphoma. Low-dose weekly methotrexate has been used to suppress the condition with some success, however the treatment effects are not lasting. Oral psoralen plus UVA phototherapy may also effectively treat and suppresses the disease. A few reports have found that following treatments may also help with disease suppression: Topical carmustine Topical nitrogen mustard Topical MTX Topical imiquimod cream Intralesional interferon Low-dose cyclophosphamide Chlorambucil Medium-dose UVA-1 therapy Excimer laser therapy Dapsone | |
What are the symptoms of Cone-rod dystrophy 6 ? | What are the signs and symptoms of Cone-rod dystrophy 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone-rod dystrophy 6. 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 - Childhood onset - Cone/cone-rod dystrophy - Peripheral visual field loss - Reduced visual acuity - 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) Naegeli syndrome ? | Naegeli syndrome belongs to a group of disorders known as ectodermal dysplasias. This condition is characterized by absent fingerprints, thickening of the palms and soles (palmoplantar keratoderma), decreased sweating (hypohidrosis), heat intolerance, patches of darker (hyperpigmented) skin, brittle nails, abnormally colored teeth, and early tooth loss. Naegeli syndrome is caused by mutations in the KRT14 gene and inherited in an autosomal dominant manner. Treatment is based on an individual's symptoms. | |
What are the symptoms of Naegeli syndrome ? | What are the signs and symptoms of Naegeli syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Naegeli 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 dental enamel 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Irregular hyperpigmentation 90% Palmoplantar keratoderma 90% Autosomal dominant inheritance - Carious teeth - Fragile nails - Heat intolerance - Hypohidrosis - Premature loss of teeth - Reticular hyperpigmentation - 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. | |
How to diagnose Naegeli syndrome ? | How is Naegeli syndrome diagnosed? In most cases of Naegeli syndrome, a diagnosis is made based on the typical clinical features of this condition. The clinical diagnosis may be confirmed by genetic testing of the KRT14 gene. GeneTests lists a laboratory that performs genetic testing of the KRT14 gene. If you are interested in genetic testing for this condition, we recommend that you consult with a genetics professional. | |
What are the treatments for Naegeli syndrome ? | Is there a treatment for Naegeli syndrome? Treatment for Naegeli syndrome is based on an individual's symptoms. Dry skin can be moisturized with creams. To avoid overheating, affected individuals should wear appropriate clothing and use wet dressings. Dental care is needed treat cavities and tooth loss. | |
What are the symptoms of Autosomal dominant caf au lait spots ? | What are the signs and symptoms of Autosomal dominant caf au lait spots ? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant caf au lait spots . 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) Cafe-au-lait spot 90% Freckling 7.5% Autosomal dominant inheritance - Lisch nodules - Multiple cafe-au-lait spots - 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) Charcot-Marie-Tooth disease type 4 ? | Charcot-Marie-Tooth type 4 (CMT4) is a congenital neurologic hereditary disease, part of a group of peripheral neuropathies known as Charcot-Marie-Tooth disease (CMT). It is classified in CMT4A, CMT4B1, CMT4B2, CMT4C, CMT4D, CMT4E, CMT4F, CMT4H and CMT4J. Each sub-type is very rare and may affect a particular ethnic group. In general, people with CMT4 develop symptoms of leg weakness in childhood and by adolescence they may not be able to walk. Other signs and symptoms include distal muscle tissue loss (muscle atrophy) associated with sensory loss and, an abnormally high arched foot (pes cavus). Sub-types may have slightly different clinical features between them. Several genes have been identified as causing CMT4, including GDAP1 (CMT4A), MTMR13 (CMT4B1), MTMR2 (CMT4B2), SH3TC2 (CMT4C), NDG1(CMT4D), EGR2 (CMT4E), PRX (CMT4F), FDG4 (CMT4H), and FIG4 (CMT4J). CMT4 is distinguished from other forms of CMT by its autosomal recessive inheritance. Treatment is symptomatic and includes physical therapy, corrective surgery (when needed) and pain medication. | |
What is (are) ADCY5-related dyskinesia ? | ADCY5-related dyskinesia is a movement disorder that is characterized by several different types of involuntary movements. Affected people generally develop sudden jerks, twitches, tremors, muscle tensing, and/or writhing movements between infancy and late adolescence. The arms, legs, neck and face are most commonly involved. Hypotonia and delayed motor milestones (i.e. crawling, walking) may also be present in more severely affected infants. As the name suggests, ADCY5-related dyskinesia is caused by changes (mutations) in the ADCY5 gene. It is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include medications, physical therapy, and occupational therapy. | |
What are the symptoms of ADCY5-related dyskinesia ? | What are the signs and symptoms of ADCY5-related dyskinesia ? The Human Phenotype Ontology provides the following list of signs and symptoms for ADCY5-related dyskinesia . 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) Congestive heart failure 5% Dilated cardiomyopathy 5% Hyperreflexia 5% Motor delay 5% Muscular hypotonia of the trunk 5% Resting tremor 5% Anxiety - Autosomal dominant inheritance - Chorea - Dysarthria - Dyskinesia - Dystonia - Facial myokymia - Juvenile onset - Limb hypertonia - 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) Systemic capillary leak syndrome ? | Systemic capillary leak syndrome is a condition in which fluid and proteins leak out of tiny blood vessels and flow into surrounding tissues, resulting in dangerously low blood pressure. Attacks frequently last for several days and require emergency care. Most cases of capillary leak occur randomly in previously healthy adults. Treatment involves preventing attacks using medications which may decrease capillary leakage and interfere with hormones that may cause future leakage. Once an attack is underway, treatment is aimed at controlling blood pressure to maintain blood flow to vital organs and prevention of swelling due to fluid accumulation. Capillary leak syndrome may lead to multiple organ failure, shock and even death. | |
What are the symptoms of Systemic capillary leak syndrome ? | What are the signs and symptoms of Systemic capillary leak syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Systemic capillary leak 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) Edema of the lower limbs 90% Leukocytosis 90% Abdominal pain 50% Abnormal immunoglobulin level 50% Diarrhea 50% Hypotension 50% Impaired temperature sensation 50% Myalgia 50% Pancreatitis 50% Pulmonary edema 50% Sinusitis 50% Weight loss 50% Abnormality of temperature regulation 7.5% Abnormality of the myocardium 7.5% Abnormality of the pericardium 7.5% Abnormality of the pleura 7.5% Abnormality of the renal tubule 7.5% Multiple myeloma 7.5% Renal insufficiency 7.5% Seizures 7.5% Sudden cardiac death 7.5% Thrombophlebitis 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 treatments for Systemic capillary leak syndrome ? | How might systemic capillary leak syndrome be treated? Unfortunately, there is no cure for systemic capillary leak syndrome at this time. However, recent studies suggest that taking medication known as beta-adrenergic agonists (including terbutaline) or undergoing immunoglobulin intravenous (IV) therapy may reduce the frequency of attacks and may increase survival in individuals affected with this condition. | |
What is (are) Hairy tongue ? | Hairy tongue is a condition in which the the central top portion of the tongue presents with an abnormal coloring. Although the abnormal coating is typically black in color, brown, yellow, and green discoloration has been described. | |
What causes Hairy tongue ? | What causes hairy tongue? The exact cause is unknown; however, smoking, alcohol, dehydration, use of antibiotics, low saliva production, trigeminal neuralgia, poor oral hygiene and cranial radiation therapy have shown to bring about hairy tongue. | |
What are the treatments for Hairy tongue ? | What treatment is available for hairy tongue? Although hairy tongue normally resolves on its own, patients are encouraged to avoid the factors that have been shown to bring about hairy tongue. Treatment usually involves gentle cleaning of the tongue with a soft toothbrush. Medication is rarely prescribed for hairy tongue; however, in severe cases, antifungals, retinoids or mouthwashes may be used. If treatment fails, the affected portion of the tongue called the papillae (finger-like projections) may be clipped or removed using techniques such as carbon dioxide laser burning or electrodesiccation (a procedure in which an electrical current is used to seal of the affected area). | |
What are the symptoms of Spastic paraplegia 17 ? | What are the signs and symptoms of Spastic paraplegia 17? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 17. 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 - Babinski sign - First dorsal interossei muscle atrophy - First dorsal interossei muscle weakness - Hyperreflexia - Impaired vibration sensation in the lower limbs - Lower limb muscle weakness - Lower limb spasticity - Pes cavus - Slow progression - Spastic gait - Spastic paraplegia - Thenar muscle atrophy - Thenar muscle weakness - 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) Infantile-onset ascending hereditary spastic paralysis ? | Infantile-onset ascending hereditary spastic paralysis is a motor neuron disease characterized by progressive weakness and stiffness of muscles in the arms, legs, and face. Initial symptoms usually occur within the first 2 years of life and include weakness of the legs, leg muscles that are abnormally tight and stiff, and eventual paralysis of the legs. Over time, muscle weakness and stiffness travels up (ascends) the body from the legs to the head. Infantile-onset ascending hereditary spastic paralysisis caused by mutations in the ALS2 gene, and this condition is inherited in an autosomal recessive pattern. | |
What are the symptoms of Infantile-onset ascending hereditary spastic paralysis ? | What are the signs and symptoms of Infantile-onset ascending hereditary spastic paralysis? The Human Phenotype Ontology provides the following list of signs and symptoms for Infantile-onset ascending hereditary spastic paralysis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal pyramidal signs 90% Feeding difficulties in infancy 90% Hemiplegia/hemiparesis 90% Hyperreflexia 90% Hypertonia 90% Neurological speech impairment 90% Abnormality of eye movement 50% Pseudobulbar signs 50% Abnormal lower motor neuron morphology - Abnormality of the corticospinal tract - Abnormality of the eye - Abnormality of the face - Achilles tendon contracture - Anarthria - Autosomal recessive inheritance - Babinski sign - Chewing difficulties - Dysarthria - Infantile onset - Motor delay - Muscle weakness - Pes cavus - Progressive - Scoliosis - Slow progression - Spastic paraplegia - Spastic tetraplegia - Tetraplegia - Urinary incontinence - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Trigger thumb ? | What are the signs and symptoms of Trigger thumb? The Human Phenotype Ontology provides the following list of signs and symptoms for Trigger thumb. 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 thumb - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Lupus ? | Lupus is an autoimmune disease that can affect almost every organ in the body. Symptoms of lupus can range from very mild to life-threatening. There are three types of lupus; systemic lupus erythematosus, discoid lupus, and drug-induced lupus. Genetics is thought to play a role in the development of lupus along with other lifestyle and environmental factors. Studies suggest that a number of different genes may be involved in determining a persons likelihood of developing the disease, which tissues and organs are affected, and the severity of disease. The treatment of lupus depends on the severity of the condition and what parts of the body are affected. Treatment may include acetaminophen, ibuprofen, antimalarial drugs, anti-inflammatory steroids, and/or immunosuppressive drugs. | |
What are the symptoms of Lupus ? | What are the signs and symptoms of Lupus? You can read about the signs and symptoms of lupus from MedlinePlus and the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). The Human Phenotype Ontology provides the following list of signs and symptoms for Lupus. 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) Abdominal pain 90% Abnormality of temperature regulation 90% Abnormality of the heart valves 90% Abnormality of the pericardium 90% Alopecia 90% Arthralgia 90% Arthritis 90% Autoimmunity 90% Chest pain 90% Cutaneous photosensitivity 90% Skin rash 90% Thrombocytopenia 90% Thrombophlebitis 90% Abnormal pyramidal signs 50% Abnormal tendon morphology 50% Abnormality of the autonomic nervous system 50% Abnormality of the endocardium 50% Abnormality of the pleura 50% Anorexia 50% Arterial thrombosis 50% Aseptic leukocyturia 50% Bone marrow hypocellularity 50% Conjunctival telangiectasia 50% Cranial nerve paralysis 50% Cutis marmorata 50% Dry skin 50% Eczema 50% Edema of the lower limbs 50% Glomerulopathy 50% Hallucinations 50% Hematuria 50% Hepatomegaly 50% Hyperkeratosis 50% Hypoproteinemia 50% Increased antibody level in blood 50% Increased intracranial pressure 50% Lymphadenopathy 50% Lymphopenia 50% Meningitis 50% Myalgia 50% Normocytic anemia 50% Recurrent respiratory infections 50% Renal insufficiency 50% Sleep disturbance 50% Splenomegaly 50% Weight loss 50% Xerostomia 50% Abnormal blistering of the skin 7.5% Abnormality of eosinophils 7.5% Abnormality of the myocardium 7.5% Ascites 7.5% Aseptic necrosis 7.5% Cellulitis 7.5% Cerebral ischemia 7.5% Cerebral palsy 7.5% Coronary artery disease 7.5% Diarrhea 7.5% Fatigable weakness 7.5% Feeding difficulties in infancy 7.5% Gastrointestinal infarctions 7.5% Hemiplegia/hemiparesis 7.5% Hypermelanotic macule 7.5% Inflammation of the large intestine 7.5% Memory impairment 7.5% Myositis 7.5% Nausea and vomiting 7.5% Pancreatitis 7.5% Peripheral neuropathy 7.5% Pulmonary embolism 7.5% Pulmonary hypertension 7.5% Pulmonary infiltrates 7.5% Restrictive lung disease 7.5% Retinopathy 7.5% Seizures 7.5% Skin ulcer 7.5% Subcutaneous hemorrhage 7.5% Telangiectasia of the skin 7.5% Urticaria 7.5% Vasculitis 7.5% Verrucae 7.5% Antinuclear antibody positivity - Antiphospholipid antibody positivity - Autosomal dominant inheritance - Hemolytic anemia - Leukopenia - Nephritis - Pericarditis - Pleuritis - Psychosis - Systemic lupus erythematosus - 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 Lupus inherited ? | Is lupus inherited? The Lupus Foundation of American has a page called Is lupus hereditary? that provides a good overview. They also have a Genetics page for all of their content tagged as related to genetics. Medscape Reference has an in-depth review of the genetics of lupus that was written for healthcare professionals but can be useful to anyone looking for detailed information. You may have to register to view the article, but registration is free. | |
What are the treatments for Lupus ? | How might lupus be treated? For information on the treatment of lupus, you can read the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) publication called Handout on Health: Systemic Lupus Erythematosus. NIAMS is the primary NIH organization for research and information on lupus. | |
What is (are) Paraneoplastic cerebellar degeneration ? | Paraneoplastic syndromes are a group of rare disorders that include paraneoplastic cerebellar degeneration (PCD). Paraneoplastic syndromes are thought to result from an abnormal immune response to an underlying (and often undetected) malignant tumor. PCD is a rare, non-metastatic complication of cancer. PCD is typically thought to be caused by antibodies generated against tumor cells. Instead of just attacking the cancer cells, the cancer-fighting antibodies also attack normal cells in the cerebellum. PCD occurs most often in individuals with the following cancers: ovarian cancer, cancer of the uterus, breast cancer, small-cell lung cancer, and Hodgkin lymphoma. Symptoms of PCD may include dizziness, loss of coordination, blurred vision, nystagmus, ataxia, and speech difficulties. | |
What is (are) Syndromic microphthalmia, type 3 ? | Syndromic microphthalmia, type 3 is a rare condition that affects the eyes and other parts of the body. Babies with this condition are generally born without eyeballs (anophthalmia) or with eyes that are unusually small (microphthalmia). Both of these abnormalities can be associated with severe vision loss. Other signs and symptoms of syndromic microphthalmia, type 3 may include seizures, brain malformations, esophageal atresia, delayed motor development, learning disabilities, and sensorineural hearing loss. The condition is caused by changes (mutations) in the SOX2 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. | |
What are the symptoms of Syndromic microphthalmia, type 3 ? | What are the signs and symptoms of Syndromic microphthalmia, type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Syndromic microphthalmia, type 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) Aplasia/Hypoplasia affecting the eye 90% Tracheoesophageal fistula 90% Abnormal form of the vertebral bodies 50% Aplasia/Hypoplasia of the corpus callosum 50% Cryptorchidism 50% External ear malformation 50% Visual impairment 50% Abnormality of the ribs 7.5% Cognitive impairment 7.5% Displacement of the external urethral meatus 7.5% Holoprosencephaly 7.5% Hydrocephalus 7.5% Hypoplasia of penis 7.5% Iris coloboma 7.5% Patent ductus arteriosus 7.5% Sclerocornea 7.5% Ventricular septal defect 7.5% Agenesis of corpus callosum - Anophthalmia - Anterior pituitary hypoplasia - Autosomal dominant inheritance - Butterfly vertebrae - Coloboma - Esophageal atresia - Frontal bossing - Hemivertebrae - Hypogonadotrophic hypogonadism - Hypoplasia of the corpus callosum - Hypospadias - Hypothalamic hamartoma - Microcephaly - Micropenis - Microphthalmia - Missing ribs - Muscular hypotonia - Optic nerve hypoplasia - Postnatal growth retardation - Rib fusion - Sensorineural hearing impairment - Short stature - Spastic diplegia - Spastic tetraplegia - Specific learning disability - Supernumerary ribs - Vertebral fusion - Vertebral hypoplasia - 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) Retinal vasculopathy with cerebral leukodystrophy ? | Retinal vasculopathy with cerebral leukodystrophy (RVCL) is a rare, genetic condition that primarily affects the central nervous system. Symptoms begin in adulthood (usually in the 40s) and may include loss of vision, mini-strokes, and dementia. Death can sometimes occur within 10 years of the first symptoms appearing. RVCL is inherited in an autosomal dominant manner and is caused by mutations in the TREX1 gene. Treatments currently aim to manage or alleviate the symptoms rather than treating the underlying cause. RVCL is now considered to include the following 3 conditions which were previously thought to be distinct: hereditary endotheliopathy, retinopathy, nephropathy, and stroke (HERNS); cerebroretinal vasculopathy (CRV); and hereditary vascular retinopathy (HVR). | |
What are the symptoms of Retinal vasculopathy with cerebral leukodystrophy ? | What are the signs and symptoms of Retinal vasculopathy with cerebral leukodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinal vasculopathy with cerebral leukodystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the retinal vasculature 90% Visual impairment 90% Abnormality of movement 50% Behavioral abnormality 50% Cerebral ischemia 50% Developmental regression 50% Hematuria 50% Hemiplegia/hemiparesis 50% Migraine 50% Nephropathy 50% Neurological speech impairment 50% Proteinuria 50% Retinopathy 50% Seizures 50% Cataract 7.5% Glaucoma 7.5% Incoordination 7.5% Micronodular cirrhosis 5% Abnormality of the musculature of the lower limbs - Abnormality of the periventricular white matter - Adult onset - Apraxia - Autosomal dominant inheritance - Central nervous system degeneration - Dementia - Dysarthria - Elevated erythrocyte sedimentation rate - Elevated hepatic transaminases - Hemiparesis - Limb pain - Lower limb hyperreflexia - Macular edema - Pigmentary retinal degeneration - Progressive - Progressive forgetfulness - Progressive visual loss - Punctate vasculitis skin lesions - Retinal exudate - Retinal hemorrhage - Stroke - Telangiectasia - Vasculitis in the skin - 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) Leber hereditary optic neuropathy with dystonia ? | Leber hereditary optic neuropathy (LHON) with dystonia is a very rare variant of LHON where an individual has LHON associated with dystonia, which involves involuntary muscle contractions, tremors, and other unctrolled movements. It is caused by mutations in one of three mitochondrial genes: MT-ND1, MT-ND3, MT-ND4, and MT-ND6. Other features that have been associated with this condition include difficulty walking, muscle wasting, scoliosis, dysphagia, dysarthria, intellectual disability, dementia, and spasticity. The dystonia usually begins in childhood; vision loss may begin in early adulthood. | |
What are the symptoms of Leber hereditary optic neuropathy with dystonia ? | What are the signs and symptoms of Leber hereditary optic neuropathy with dystonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber hereditary optic neuropathy with dystonia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of eye movement - Athetosis - Bradykinesia - Dementia - Dysarthria - Dysphagia - Dystonia - Increased CSF lactate - Increased serum lactate - Intellectual disability - Leber optic atrophy - Mitochondrial inheritance - Optic atrophy - Peripheral neuropathy - Scoliosis - Skeletal muscle atrophy - Spasticity - Visual loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Pseudohypoparathyroidism type 1C ? | Pseudohypoparathyroidism type 1C is a genetic disorder that is very similar to hypoparathyroidism (parathyroid hormone levels are too low). However, pseudohypoparathyroidism is caused by no response to parathyroid hormone rather than having too little of the hormone itself. This causes low calcium and high phosphate levels in the blood. This condition is also associated with a group of symptoms referred to as Albright's hereditary osteodystrophy, which includes short stature, a round face, obesity, and short hand bones. This disorder is different than pseudohypoparathyroidism type 1A because people with type 1C do not have abnormal activity of a particular protein (stimulatory protein G (Gs alpha)). Type 1C is inherited in an autosomal dominant fashion and is caused by a specific spelling mistake (mutation) in the GNAS gene. | |
What are the symptoms of Pseudohypoparathyroidism type 1C ? | What are the signs and symptoms of Pseudohypoparathyroidism type 1C? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudohypoparathyroidism type 1C. 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 - Basal ganglia calcification - Brachydactyly syndrome - Cataract - Choroid plexus calcification - Cognitive impairment - Delayed eruption of teeth - Depressed nasal bridge - Elevated circulating parathyroid hormone (PTH) level - Full cheeks - Hyperphosphatemia - Hypocalcemic tetany - Hypogonadism - Hypoplasia of dental enamel - Hypothyroidism - Intellectual disability - Low urinary cyclic AMP response to PTH administration - Nystagmus - Obesity - Osteoporosis - Pseudohypoparathyroidism - Round face - Seizures - Short metacarpal - Short metatarsal - Short neck - Short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Tularemia ? | Tularemia is an infection common in wild rodents caused by the bacterium Francisella tularensis. It is transmitted to humans by contact with infected animal tissues or by ticks, biting flies, and mosquitoes. The condition is most common in North America and parts of Europe and Asia. It is very rare in the United States. The illness, which is characterized by fever, chills, headache, joint pain and muscle weakness, may continue for several weeks after symptoms begin. Streptomycin and tetracycline are commonly used to treat the infection. | |
What are the symptoms of Tularemia ? | What are the symptoms of tularemia? The symptoms of tularemia usually appear 3 to 5 days after exposure to the bacteria, but can take as long as 14 days. Symptoms may include: Fever Chills Headache Diarrhea Muscle pains Joint stiffness Dry cough Progressive weakness Sweating Weight loss People can also catch pneumonia and develop chest pain, bloody sputum and can have trouble breathing and even sometimes stop breathing. Other symptoms of tularemia depend on how a person was exposed to the tularemia bacteria. These symptoms can include ulcers on the skin or mouth, swollen and painful lymph glands, swollen and painful eyes, and a sore throat. | |
What causes Tularemia ? | What causes tularemia? Tularemia is caused by the bacterium Francisella tularensis found in animals (especially rodents, rabbits, and hares). Humans can get the disease through: Direct contact, through a break in the skin, with an infected animal or its dead body The bite of an infected tick, horsefly, or mosquito Eating infected meat (rare) Breathing in the bacteria, F. tularensis Tularemia is not known to be spread from person to person. People who have tularemia do not need to be isolated. | |
What are the treatments for Tularemia ? | How is tularemia treated? The goal of treatment is to cure the infection with antibiotics. Streptomycin and tetracycline are commonly used to treat this infection. Once daily gentamycin treatment has been tried with excellent results as an alternative therapy to streptomycin. However, only a few cases have been studied to date. Tetracycline and Chloramphenicol can be used alone, but they are not considered a first-line treatment. | |
What are the symptoms of Ectrodactyly cleft palate syndrome ? | What are the signs and symptoms of Ectrodactyly cleft palate syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectrodactyly cleft palate 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 skin - Autosomal dominant inheritance - Cleft palate - Split hand - 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) Guillain-Barre syndrome ? | Guillain-Barr syndrome is a rare disorder in which the body's immune system attacks part of the peripheral nervous system. Symptoms include muscle weakness, numbness, and tingling sensations, which can increase in intensity until the muscles cannot be used at all. Usually Guillain-Barr syndrome occurs a few days or weeks after symptoms of a viral infection. Occasionally, surgery or vaccinations will trigger the syndrome. It remains unclear why only some people develop Guillain-Barr syndrome but there may be a genetic predisposition in some cases. Diagnosed patients should be admitted to a hospital for early treatment. There is no cure for Guillain-Barr syndrome, but treatments such as plasma exchange (plasmapheresis) and high dose immunoglobulins may reduce the severity and duration of symptoms. Recovery can take as little as a few days to as long as a few years. About 30% of those with Guillain-Barr syndrome have residual weakness. A small number may suffer a relapse many years after the initial attack. | |
What are the symptoms of Guillain-Barre syndrome ? | What are the signs and symptoms of Guillain-Barre syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Guillain-Barre 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) Acute demyelinating polyneuropathy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Autosomal dominant optic atrophy plus syndrome ? | What are the signs and symptoms of Autosomal dominant optic atrophy plus syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant optic atrophy plus 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) Impaired pain sensation 90% Optic atrophy 90% Sensorineural hearing impairment 90% Abnormality of color vision 50% Visual impairment 50% Abnormality of visual evoked potentials 7.5% Decreased nerve conduction velocity 7.5% Strabismus 7.5% Ataxia 5% Abnormal amplitude of pattern reversal visual evoked potentials - Abnormal auditory evoked potentials - Autosomal dominant inheritance - Central scotoma - Centrocecal scotoma - Horizontal nystagmus - Increased variability in muscle fiber diameter - Myopathy - Ophthalmoplegia - Peripheral neuropathy - Phenotypic variability - Progressive sensorineural hearing impairment - Ptosis - Red-green dyschromatopsia - Reduced visual acuity - Tritanomaly - 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 White sponge nevus of cannon ? | What are the signs and symptoms of White sponge nevus of cannon? The Human Phenotype Ontology provides the following list of signs and symptoms for White sponge nevus of cannon. 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 dominant inheritance - Oral leukoplakia - 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 Limb deficiencies distal with micrognathia ? | What are the signs and symptoms of Limb deficiencies distal with micrognathia? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb deficiencies distal with micrognathia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of chromosome segregation 90% Abnormality of the ankles 90% Abnormality of the metacarpal bones 90% Low-set, posteriorly rotated ears 90% Split foot 90% Abnormality of the wrist 50% Aplasia/Hypoplasia of the radius 50% Aplasia/Hypoplasia of the thumb 50% Cognitive impairment 50% Conductive hearing impairment 50% Cryptorchidism 50% Myopia 50% Narrow mouth 50% Proteinuria 50% Renal hypoplasia/aplasia 50% Renal insufficiency 50% Abnormality of the ulna 7.5% Aplasia/Hypoplasia of the tongue 7.5% Cleft palate 7.5% Macrocephaly 7.5% Microdontia 7.5% Nystagmus 7.5% Prominent nasal bridge 7.5% Sensorineural hearing impairment 7.5% Short stature 7.5% Tarsal synostosis 7.5% Hypoplasia of the maxilla 5% Abnormality of the pinna - Autosomal dominant inheritance - Autosomal recessive inheritance - Camptodactyly - High palate - Intellectual disability - Microretrognathia - Nail dystrophy - Renal hypoplasia - Ridged nail - Split hand - 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) Anonychia congenita ? | Anonychia congenita is an extremely rare nail disorder characterized by the complete absence (anonychia) or abnormally developed fingernails and toenails. Affected individuals usually do not have hair, teeth, or bone abnormalities. Signs and symptoms are variable, even among affected members of the same family. Less than 20 individuals with anonychia congenita have been identified. This condition is thought to be caused by mutations in the RSPO4 gene and inherited in an autosomal recessive fashion. | |
What are the symptoms of Anonychia congenita ? | What are the signs and symptoms of Anonychia congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Anonychia congenita. 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) Anonychia - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the treatments for Anonychia congenita ? | How might anonychia congenita be treated? There is limited information regarding anonychia congenita because it is very rare. After a careful review of the medical literature, we did not find any information about treatment for this condition. | |
What are the symptoms of Microphthalmia syndromic 9 ? | What are the signs and symptoms of Microphthalmia syndromic 9? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 9. 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 affecting the eye 90% Cognitive impairment 90% Abnormal lung lobation 50% Aplasia/Hypoplasia of the lungs 50% Congenital diaphragmatic hernia 50% Abnormal localization of kidney 7.5% Abnormality of female internal genitalia 7.5% Abnormality of the larynx 7.5% Abnormality of the spleen 7.5% Annular pancreas 7.5% Aplasia/Hypoplasia of the pancreas 7.5% Cryptorchidism 7.5% Duodenal stenosis 7.5% Intrauterine growth retardation 7.5% Low-set, posteriorly rotated ears 7.5% Muscular hypotonia 7.5% Renal hypoplasia/aplasia 7.5% Vesicoureteral reflux 7.5% Low-set ears 5% Truncus arteriosus 5% Agenesis of pulmonary vessels - Anophthalmia - Atria septal defect - Autosomal recessive inheritance - Bicornuate uterus - Bilateral lung agenesis - Bilateral microphthalmos - Blepharophimosis - Coarctation of aorta - Diaphragmatic eventration - Horseshoe kidney - Hydronephrosis - Hypoplasia of the uterus - Hypoplastic left atrium - Hypoplastic spleen - Inguinal hernia - Intellectual disability, profound - Patent ductus arteriosus - Pelvic kidney - Pulmonary artery atresia - Pulmonary hypoplasia - Pulmonic stenosis - Renal hypoplasia - Renal malrotation - Respiratory insufficiency - Right aortic arch with mirror image branching - Short stature - Single ventricle - Tetralogy of Fallot - Ventricular septal defect - 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) Microcephaly ? | Microcephaly is a rare neurological condition in which a person's head is significantly smaller than expected based on standardized charts. Some cases of microcephaly are detected at birth, while others develop in the first few years of life. Some children with microcephaly have normal intelligence and development. However, microcephaly can be associated with seizures; developmental delay; intellectual disability; problems with movement and balance; feeding difficulties; hearing loss; and/or vision problems depending on the severity of the condition. Because the growth of the skull is determined by brain growth, the condition often occurs when the brain fails to grow at a normal rate. This may be caused by a variety of genetic abnormalities; exposure to certain viruses (i.e. rubella, toxoplasmosis, and cytomegalovirus), drugs, alcohol, or toxic chemicals during pregnancy; untreated maternal PKU during pregnancy; and/or severe malnutrition during pregnancy. Although there is no treatment for microcephaly, early intervention may help enhance development and improve quality of life. | |
What are the symptoms of IVIC syndrome ? | What are the signs and symptoms of IVIC syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for IVIC 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) Hearing impairment 90% Limitation of joint mobility 90% Short stature 90% Strabismus 90% Abnormal dermatoglyphics 50% Aplasia/Hypoplasia of the thumb 50% Radioulnar synostosis 50% Scoliosis 50% Synostosis of carpal bones 50% Triphalangeal thumb 50% Abnormality of the clavicle 7.5% Arrhythmia 7.5% Leukocytosis 7.5% Preaxial hand polydactyly 7.5% Thrombocytopenia 7.5% Urogenital fistula 7.5% Absent thumb - Anal atresia - Autosomal dominant inheritance - Carpal bone hypoplasia - Carpal synostosis - External ophthalmoplegia - Hypoplasia of deltoid muscle - Hypoplasia of the radius - Intestinal malrotation - Limited elbow movement - Limited interphalangeal movement - Limited wrist movement - Pectoralis major hypoplasia - Phenotypic variability - Rectovaginal fistula - Short 1st metacarpal - Small thenar eminence - 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 Preaxial deficiency, postaxial polydactyly and hypospadias ? | What are the signs and symptoms of Preaxial deficiency, postaxial polydactyly and hypospadias? The Human Phenotype Ontology provides the following list of signs and symptoms for Preaxial deficiency, postaxial polydactyly and hypospadias. 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 thumb 90% Brachydactyly syndrome 90% Displacement of the external urethral meatus 90% Postaxial hand polydactyly 90% Short distal phalanx of finger 90% Short hallux 90% Aplastic/hypoplastic toenail 50% Clinodactyly of the 5th finger 50% Autosomal dominant inheritance - Glandular hypospadias - Short 2nd toe - 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 Distal myopathy with vocal cord weakness ? | What are the signs and symptoms of Distal myopathy with vocal cord weakness? The Human Phenotype Ontology provides the following list of signs and symptoms for Distal myopathy with vocal cord weakness. 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) Dementia 5% Distal sensory impairment 5% Abnormal lower motor neuron morphology - Abnormal upper motor neuron morphology - Abnormality of the nasopharynx - Adult onset - Amyotrophic lateral sclerosis - Aspiration - Autosomal dominant inheritance - Bowing of the vocal cords - Bulbar palsy - Bulbar signs - Decreased nerve conduction velocity - Distal muscle weakness - Dysarthria - Dysphagia - Elevated serum creatine phosphokinase - Hoarse voice - Hyperreflexia - Respiratory insufficiency due to muscle weakness - Rimmed vacuoles - Shoulder girdle muscle weakness - Variable expressivity - 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) SHORT syndrome ? | SHORT syndrome is a condition characterized by multiple abnormalities that affect several parts of the body. The term SHORT is an acronym with each letter representing a common feature in affected individuals: (S) short stature; (H) hyperextensibility of joints and/or hernia (inguinal); (O) ocular depression (deep-set eyes); (R) Rieger anomaly (defective development of the anterior chamber of the eye that can lead to glaucoma); and (T) teething delay. Other features commonly present include a triangular face, small chin with a dimple, loss of fat under the skin (lipodystrophy), abnormal position of the ears, hearing loss and delayed speech. It is caused by mutations in the PIK3R1 gene. Inheritance is autosomal dominant. Treatment focuses on the specific symptoms present in each individual. | |
What are the symptoms of SHORT syndrome ? | What are the signs and symptoms of SHORT syndrome? SHORT syndrome is a disorder that affects multiple parts of the body. It is mainly characterized by several features that are represented by the acronym SHORT: (S) short stature; (H) hyperextensible joints (joints that stretch more than usual) and/or hernia (inguinal); (O) ocular depression (deep-set eyes); (R) Rieger anomaly (defective development of the anterior chamber of the eye that can lead to glaucoma); and (T) teething delay. A loss of fat under the skin (lipodystrophy), usually most prominent in the face and upper body, is also a main feature of the syndrome. Affected individuals often have additional, distinctive, facial features including a small chin with a dimple; triangular-shaped face; prominent forehead; abnormal positioning of the ears; large ears; underdeveloped (hypoplastic) or thin nostrils; and thin, wrinkled skin that gives the impression of premature aging. Intelligence is often normal, but some affected individuals have speech delay and/or other developmental delays in childhood. Hearing loss is common. Affected infants may have difficulty gaining weight and may be prone to illnesses. Individuals may also develop diabetes in the second decade of life. The Human Phenotype Ontology provides the following list of signs and symptoms for SHORT 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 anterior chamber 90% Aplasia/Hypoplasia of the iris 90% Deeply set eye 90% Hernia of the abdominal wall 90% Joint hypermobility 90% Sensorineural hearing impairment 90% Short stature 90% Abnormal hair quantity 50% Abnormality of adipose tissue 50% Abnormality of dental enamel 50% Abnormality of the pupil 50% Diabetes mellitus 50% Glaucoma 50% Insulin resistance 50% Malar flattening 50% Megalocornea 50% Microdontia 50% Neurological speech impairment 50% Weight loss 50% Abnormality of the hip bone 7.5% Brachydactyly syndrome 7.5% Clinodactyly of the 5th finger 7.5% Frontal bossing 7.5% Hand polydactyly 7.5% Hypertelorism 7.5% Hypoplasia of the zygomatic bone 7.5% Myotonia 7.5% Nephrolithiasis 7.5% Opacification of the corneal stroma 7.5% Posterior embryotoxon 7.5% Prominent supraorbital ridges 7.5% Telecanthus 7.5% Triangular face 7.5% Wide nasal bridge 7.5% Abnormality of the immune system - Autosomal dominant inheritance - Birth length less than 3rd percentile - Cataract - Chin dimple - Clinodactyly - Delayed eruption of teeth - Delayed skeletal maturation - Delayed speech and language development - Dental malocclusion - Enlarged epiphyses - Glucose intolerance - Hyperglycemia - Hypodontia - Inguinal hernia - Insulin-resistant diabetes mellitus - Intrauterine growth retardation - Joint laxity - Lipodystrophy - Macrotia - Myopia - Prominent forehead - Radial deviation of finger - Rieger anomaly - Small for gestational age - Thin skin - Underdeveloped nasal alae - 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 SHORT syndrome inherited ? | How is SHORT syndrome inherited? SHORT syndrome is inherited in an autosomal dominant pattern. For conditions with autosomal dominant inheritance, one abnormal copy of the causative gene in each cell is sufficient to cause signs and symptoms of the condition. The abnormal copy of the gene may be inherited from an affected parent, or it may occur for the first time in an affected individual. When an individual with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to be affected. | |
How to diagnose SHORT syndrome ? | How is SHORT syndrome diagnosed? There is no formal criteria for diagnosis yet. The term SHORT syndrome was first created to reflect several of the features of the original reported cases: Short stature, Hyperextensibility, Ocular depression (deeply set eyes), Rieger anomaly, and Teething delay. However, it is now recognized that all of these five features are neither required to make the diagnosis nor necessarily the most specific features of SHORT syndrome. The features most consistently observed in SHORT syndrome include: Intrauterine growth restriction (IUGR) Short stature Partial lipodystrophy Facial characteristics: Face with triangular shape, prominent forehead, deep-set eyes, nose with a narrow low-hanging tip and thin nasal alae, small chin with a central dimple and large ears that are low-set. Other frequent features include: Axenfeld-Rieger anomaly or related eye anomalies Delayed dentition Diabetes. In general, the facial features allow to make a suspicion of the diagnosis. Diagnosis is confirmed with the genetic testing showing a mutation in the PIK3R1 gene. | |
What is (are) Primary spontaneous pneumothorax ? | Primary spontaneous pneumothorax is an abnormal accumulation of air in the pleural space (the space between the lungs and the chest cavity) that can result in the partial or complete collapse of a lung. It is called primary because it occurs in the absence of lung disease such as emphysema and spontaneous because the pneumothhorax was not caused by an injury such as a rib fracture. Primary spontaneous pneumothorax is likely caused by the formation of small sacs of air (blebs) in lung tissue that rupture, causing air to leak into the pleural space. This air creates pressure on the lung and can lead to its collapse. Symptoms may include chest pain on the side of the collapsed lung and shortness of breath. The blebs that lead to primary spontaneous pneumothorax may be present in an individual's lung (or lungs) for a long time before they rupture. A change in air pressure or a very sudden deep breath may cause a rupture to occur. In most cases, there are no prior signs of illness. Once a bleb ruptures and causes a pneumothorax, rates for recurrence may be as high as 13 to 60 percent. Many researchers believe that genetic factors may play a role in the development of primary spontaneous pneumothorax. In rare cases, the condition can be caused by mutations in the FLCN gene. In these cases, the condition follows an autosomal dominant pattern of inheritance. In addition, several genetic disorders have been linked to primary spontaneous pneumothorax, including Marfan syndrome, homocystinuria, and Birt-Hogg-Dube syndrome. | |
What are the symptoms of Primary spontaneous pneumothorax ? | What are the signs and symptoms of Primary spontaneous pneumothorax? The Human Phenotype Ontology provides the following list of signs and symptoms for Primary spontaneous pneumothorax. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pleura 90% Autosomal dominant inheritance - Incomplete penetrance - Spontaneous pneumothorax - 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 Reticuloendotheliosis ? | What are the signs and symptoms of Reticuloendotheliosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Reticuloendotheliosis. 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) Anemia - Hepatosplenomegaly - Infantile onset - Jaundice - Lymphadenopathy - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Hashimoto's syndrome ? | Hashimotos syndrome is a form of chronic inflammation that can damage the thyroid, reducing its ability to produce hormones (hypothyroidism). An early sign of the condition may be enlargement of the thyroid (called a goiter), which can potentially interfere with breathing or swallowing. Other signs and symptoms may include tiredness, weight gain, thin and dry hair, joint or muscle pain, constipation, cold intolerance, and/or a slowed heart rate. Affected women may have irregular menstrual periods or difficulty becoming pregnant. Hashimotos syndrome is the most common cause of hypothyroidism in the United States. It is more common in women than in men, and it usually appears in mid-adulthood. The exact cause is unknown but it is thought to result from a combination of genetic and environmental factors. Treatment is not always needed, but may include taking synthetic thyroid hormone. | |
What are the symptoms of Hashimoto's syndrome ? | What are the signs and symptoms of Hashimoto's syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hashimoto's 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) Autoimmune antibody positivity - Autosomal dominant inheritance - Hashimoto thyroiditis - 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 Hashimoto's syndrome ? | What causes Hashimotos syndrome? Hashimoto's syndrome is an autoimmune disorder thought to result from a combination of genetic and environmental factors. Some of these factors have been identified, but many remain unknown. People with Hashimotos syndrome have antibodies to various thyroid antigens. The antibodies "attack" the thyroid, resulting in damage to the gland. Most of the genes associated with Hashimotos syndrome are part of a gene family called the human leukocyte antigen (HLA) complex, which helps the immune system distinguish the body's own proteins from proteins made by viruses and bacteria or other agents. However, the genetic factors have only a small effect on a person's overall risk of developing this condition. Non-genetic factors that may trigger the condition in people at risk may include changes in sex hormones (particularly in women), viral infections, certain medications, exposure to ionizing radiation, and excess consumption of iodine (a substance involved in thyroid hormone production). | |
Is Hashimoto's syndrome inherited ? | Is Hashimoto's syndrome inherited? The inheritance pattern of Hashimoto's syndrome is unclear because many genetic and environmental factors appear to be involved. However, the condition can cluster in families, and having a close relative with Hashimoto's syndrome or another autoimmune disorder likely increases a person's risk of developing the condition. | |
What is (are) Rett syndrome ? | Rett syndrome is a progressive, neuro-developmental condition that primarily affects girls. Affected girls appear to have normal psychomotor development during the first 6 to 18 months of life, followed by a developmental "plateau," and then rapid regression in language and motor skills. Additional signs and symptoms may include repetitive, stereotypic hand movements; fits of screaming and inconsolable crying; autistic features; panic-like attacks; teeth grinding (bruxism); episodic apnea and/or hyperpnea; gait ataxia and apraxia; tremors; seizures; and slowed head growth. Some people have an atypical form of Rett syndrome that may be more mild or more severe. Classic Rett syndrome is most commonly caused by mutations in the MECP2 gene and is usually inherited in an X-linked dominant manner. The vast majority of cases are not inherited from a parent, but are due to a new mutation in the affected person. Treatment mainly focuses on the specific signs and symptoms of the condition. | |
What are the symptoms of Rett syndrome ? | What are the signs and symptoms of Rett syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rett 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 voice 90% Developmental regression 90% Gait disturbance 90% Neurological speech impairment 90% Stereotypic behavior 90% Abnormality of the eye 50% Cerebral cortical atrophy 50% Hypertonia 50% Incoordination 50% Kyphosis 50% Muscle weakness 50% Respiratory insufficiency 50% Scoliosis 50% Seizures 50% Sleep disturbance 50% Tremor 50% Abnormality of the autonomic nervous system 7.5% Apnea 7.5% Arrhythmia 7.5% Autism 7.5% Hemiplegia/hemiparesis 7.5% Hepatomegaly 7.5% Limitation of joint mobility 7.5% Microcephaly 7.5% Reduced bone mineral density 7.5% Self-injurious behavior 7.5% Skeletal muscle atrophy 7.5% Abnormality of the teeth - Autistic behavior - Bruxism - Cachexia - Constipation - Dystonia - EEG abnormality - EKG: T-wave abnormalities - Gait apraxia - Gait ataxia - Gastroesophageal reflux - Intellectual disability, profound - Intermittent hyperventilation - Motor deterioration - Postnatal microcephaly - Prolonged QTc interval - Short foot - Short stature - Spasticity - Truncal ataxia - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What causes Rett syndrome ? | What causes Rett syndrome? Rett syndrome is typically caused by changes (mutations) in the MECP2 gene. This gene provides instructions for making a protein (MeCP2) needed for the development of the nervous system and normal brain function. Mutations in the MECP2 gene that cause Rett syndrome can change the MeCP2 protein or result in the production of too little protein, which appears to disrupt the normal function of neurons and other cells in the brain. Several conditions caused by changes in other genes (such as FOXG1 syndrome) have overlapping signs and/or symptoms of Rett syndrome. These conditions were once thought to be variant forms of Rett syndrome, but are now usually considered to be separate disorders. | |
Is Rett syndrome inherited ? | Is Rett syndrome inherited? Although Rett syndrome is a genetic disorder, less than 1 percent of recorded cases are inherited or passed from one generation to the next. Most cases are sporadic, which means the mutation occurs randomly, and are not inherited. A few families have been described with more than one affected family member. These cases helped researchers determine that Rett syndrome has an X-linked dominant pattern of inheritance. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition. | |
What are the symptoms of Scott Bryant Graham syndrome ? | What are the signs and symptoms of Scott Bryant Graham syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Scott Bryant Graham 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% Abnormality of the eyelashes 90% Coarse hair 90% Cognitive impairment 90% Finger syndactyly 90% Hypertrichosis 90% Narrow nasal bridge 90% Short nose 90% Short stature 90% Thick eyebrow 90% Spina bifida occulta 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Myotonia congenita autosomal dominant ? | Myotonia congenita is a genetic condition characterized by the inability of the skeletal muscles to quickly relax after a voluntary movement. The symptoms associated with the condition typically appear in childhood and vary from person to person. There are two forms of the disorder: Becker type, which is the most common form; and Thomsen disease, which is a rare and milder form. Both conditions are caused by mutations in the CLCN1 gene. However, the conditions have different modes of inheritance. The Becker type is inherited in an autosomal recessive fashion, and the Thomsen type is inherited in an autosomal dominant manner. | |
What are the symptoms of Myotonia congenita autosomal dominant ? | What are the signs and symptoms of Myotonia congenita autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Myotonia congenita autosomal dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) EMG abnormality 90% Myotonia 90% Muscle weakness 75% Myalgia 5% Myotonia with warm-up phenomenon 27/27 Percussion myotonia 26/27 Muscle stiffness 25/27 Skeletal muscle hypertrophy 7/9 Myalgia 11/27 Autosomal dominant inheritance - Autosomal recessive inheritance - Childhood onset - Dysphagia - EMG: myotonic runs - Handgrip myotonia - Muscle hypertrophy of the lower extremities - Phenotypic variability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
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