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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 c... | |
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 imp... | |
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 resul... | |
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 a... | |
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 ... | |
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 Medline... | |
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 t... | |
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 co... | |
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.... | |
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 disa... | |
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 (... | |
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. ... | |
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 cond... | |
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 fam... | |
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 interv... | |
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 associa... | |
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 Medic... | |
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 (... | |
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 Medic... | |
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 ... | |
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 th... | |
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 les... | |
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 t... | |
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 ... | |
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... | |
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 envir... | |
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 Medic... | |
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 ... | |
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... | |
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 Dic... | |
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 c... | |
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 ... | |
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 inte... | |
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 c... | |
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 gr... | |
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 in... | |
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 M... | |
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 health... | |
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... | |
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... | |
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 ton... | |
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 D... | |
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, ... | |
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... | |
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 loo... | |
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 ot... | |
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, ... | |
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 professiona... | |
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 typicall... | |
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... | |
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... | |
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.... | |
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 wi... | |
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... | |
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 t... | |
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 le... | |
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... | |
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... | |
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 pneu... | |
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 Eati... | |
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... | |
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... | |
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 wee... | |
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 Medic... | |
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 thi... | |
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 Medline... | |
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 condit... | |
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 t... | |
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 Dicti... | |
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... | |
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. How... | |
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 loo... | |
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... | |
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.... | |
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 ... | |
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);... | |
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 affe... | |
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 reco... | |
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 p... | |
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... | |
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 D... | |
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 inc... | |
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 Dic... | |
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 "att... | |
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 pers... | |
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 m... | |
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 loo... | |
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 protei... | |
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 affecte... | |
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 Medline... | |
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 com... | |
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 c... |
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