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What is (are) Prosthetic joint infection ? | A prosthetic joint infection (PJI) is a rare complication of joint replacement surgery, also known as arthroplasty. Arthroplasty is done to help relieve pain and restore function in a severely diseased joint, such as a knee, hip or shoulder. Approximately 0.5 to 1 percent of people with replacement joints develop a P... |
What are the symptoms of Frontometaphyseal dysplasia ? | What are the signs and symptoms of Frontometaphyseal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Frontometaphyseal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePl... |
What are the symptoms of Dwarfism tall vertebrae ? | What are the signs and symptoms of Dwarfism tall vertebrae? The Human Phenotype Ontology provides the following list of signs and symptoms for Dwarfism tall vertebrae. 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) Pyridoxine-dependent epilepsy ? | Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in infancy or, in some cases, before birth. Those affected typically experience prolonged seizures lasting several minutes (status epilepticus). These seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seiz... |
What are the symptoms of Pyridoxine-dependent epilepsy ? | What are the signs and symptoms of Pyridoxine-dependent epilepsy? Those affected by pyridoxine-dependent epilepsy typically experience prolonged seizures lasting several minutes (status epilepticus). These seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures). Additional featu... |
What causes Pyridoxine-dependent epilepsy ? | What causes pyridoxine-dependent epilepsy? Mutations in the ALDH7A1 gene cause pyridoxine-dependent epilepsy. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one ... |
What are the treatments for Pyridoxine-dependent epilepsy ? | How might pyridoxine-dependent epilepsy be treated? Anticonvulsant drugs, which are usually given to control seizures, are ineffective in people with pyridoxine-dependent epilepsy. Instead, people with this type of seizure are medically treated with large daily doses of pyridoxine (a type of vitamin B6 found in food). ... |
What are the symptoms of Spinocerebellar ataxia 28 ? | What are the signs and symptoms of Spinocerebellar ataxia 28? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 28. 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 are the symptoms of Limb-girdle muscular dystrophy type 1A ? | What are the signs and symptoms of Limb-girdle muscular dystrophy type 1A? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy type 1A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... |
What is (are) Dravet syndrome ? | Dravet syndrome is a severe form of epilepsy. The condition appears during the first year of life as frequent fever-related (febrile) seizures. As the condition progresses, other types of seizures typically occur, including myoclonus and status epilepticus. A family history of either epilepsy or febrile seizures exists... |
What are the symptoms of Dravet syndrome ? | What are the signs and symptoms of Dravet syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Dravet 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... |
What are the symptoms of Rhabdomyosarcoma alveolar ? | What are the signs and symptoms of Rhabdomyosarcoma alveolar? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhabdomyosarcoma alveolar. 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) Membranous nephropathy ? | Membranous nephropathy is a kidney disease characterized by inflammation of the structures inside the kidney that help filter wastes and fluids. When the glomerular basement membrane becomes thickened, it does not work normally, allowing large amounts of protein to be lost in the urine. Symptoms develop gradually and m... |
What is (are) Proud syndrome ? | Proud syndrome is a rare neurological condition that is primarily characterized by severe intellectual disability, agenesis of the corpus callosum, seizures, and spasticity. It usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. Proud syndrome is caused by changes (mutation... |
What are the symptoms of Proud syndrome ? | What are the signs and symptoms of Proud syndrome? The most common signs and symptoms of Proud syndrome are: Agenesis of the corpus callosum Severe intellectual disability Seizures Stiff and/or rigid muscles (spasticity) Other features may include microcephaly (unusually small head), limb contractures, scoliosis, chara... |
What causes Proud syndrome ? | What causes Proud syndrome? Proud syndrome is caused by changes (mutations) in the ARX gene, which encodes a protein that regulates the activity of other genes. This protein is especially important during early embryonic development since it is thought to be involved in the formation of many different body structures s... |
Is Proud syndrome inherited ? | How is Proud syndrome inherited? Proud syndrome is inherited in an X-linked recessive manner. A condition is considered X-linked if the mutated gene that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome). Women have two X chromosomes and m... |
What are the treatments for Proud syndrome ? | How might Proud syndrome be treated? The treatment of Proud syndrome is based on the signs and symptoms present in each person. For example, spasticity may be treated with a variety of therapies including medications and/or physical therapy. Medications may be prescribed to help prevent and/or control recurrent seizure... |
What is (are) Leprechaunism ? | Leprechaunism is a congenital (present from birth) condition characterized by extreme insulin resistance, pre- and postnatal growth delays, characteristic facial features, skin abnormalities, muscular hypotrophy (reduced muscle mass) and enlarged external genitalia in both males and females. The condition is caused by ... |
What are the symptoms of Leprechaunism ? | What are the signs and symptoms of Leprechaunism? The Human Phenotype Ontology provides the following list of signs and symptoms for Leprechaunism. 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 Roch-Leri mesosomatous lipomatosis ? | What are the signs and symptoms of Roch-Leri mesosomatous lipomatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Roch-Leri mesosomatous lipomatosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... |
What are the symptoms of Osteogenesis imperfecta type VII ? | What are the signs and symptoms of Osteogenesis imperfecta type VII? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta type VII. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... |
What are the symptoms of Robinow Sorauf syndrome ? | What are the signs and symptoms of Robinow Sorauf syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Robinow Sorauf syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medic... |
What is (are) Cold urticaria ? | Cold urticaria is a condition that affects the skin. Signs and symptoms generally include reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent within 2-5 minutes after exposure and can last for 1-2 hours. The exact cau... |
What are the symptoms of Cold urticaria ? | What are the signs and symptoms of cold urticaria? The signs and symptoms of cold urticaria and the severity of the condition vary. Affected people generally develop reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent... |
What causes Cold urticaria ? | What causes cold urticaria? In most cases of cold urticaria, the underlying cause is poorly understood. Although the symptoms are triggered by exposure of the skin to the cold (most often when the temperature is lower than 39 degrees Fahrenheit), it is unclear why this exposure leads to such a significant reaction. Rar... |
Is Cold urticaria inherited ? | Is cold urticaria inherited? Cold urticaria is not thought to be inherited. Most cases occur sporadically in people with no family history of the condition. |
How to diagnose Cold urticaria ? | How is cold urticaria diagnosed? A diagnosis of cold urticaria is typically suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis and determine if there are other associated conditions. This generally involves a cold simulation test in whic... |
What are the treatments for Cold urticaria ? | How might cold urticaria be treated? The treatment of cold urticaria generally consists of patient education, avoiding scenarios that may trigger a reaction (i.e. cold temperatures, cold water), and/or medications. Prophylactic treatment with high-dose antihistimines may be recommended when exposure to cold is expected... |
What is (are) Hypertrichosis lanuginosa congenita ? | Hypertrichosis lanuginosa congenita is a congenital (present from birth) skin disease characterized by excessive lanugo (very fine, soft, unpigmented) hair covering the entire body, with the exception of the palms, soles, and mucous membranes. The hair can grow to be 3 to 5 cm in length. This condition appears to follo... |
What are the symptoms of Hypertrichosis lanuginosa congenita ? | What are the signs and symptoms of Hypertrichosis lanuginosa congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertrichosis lanuginosa congenita. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... |
What is (are) Familial stomach cancer ? | Familial stomach cancer is a cluster of stomach cancer within a family. Most cases of stomach cancer occur sporadically in people with little to no family history of the condition; however, approximately 10% of stomach cancer is considered "familial." Although the underlying cause of some familial cases is unknown, gen... |
What are the symptoms of Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA ? | What are the signs and symptoms of Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA. ... |
What is (are) Congenital pulmonary lymphangiectasia ? | Congenital pulmonary lymphangiectasia is a rare developmental disorder present from birth that affects the lungs. Infants with this condition have abnormally widened lymphatic vessels within the lungs. The lymphatic system, which helps the immune system protect the body against infection and disease, consists of a netw... |
What are the symptoms of Congenital pulmonary lymphangiectasia ? | What are the signs and symptoms of Congenital pulmonary lymphangiectasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital pulmonary lymphangiectasia. 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) Hypomyelination with atrophy of basal ganglia and cerebellum ? | Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is a disease that affects certain parts of the brain. Symptoms usually begin in infancy or early childhood and vary in severity; they include movement difficulties and delay in mental development or learning problems. These symptoms occur because ce... |
What are the symptoms of Hypomyelination with atrophy of basal ganglia and cerebellum ? | What are the signs and symptoms of Hypomyelination with atrophy of basal ganglia and cerebellum? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomyelination with atrophy of basal ganglia and cerebellum. If the information is available, the table below includes how often the sympto... |
What causes Hypomyelination with atrophy of basal ganglia and cerebellum ? | What causes hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC)? Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is caused by a mutation in the TUBB4A gene. The mutation usually occurs for the first time in a family as a result of a new mutation in the affected individual. The muta... |
How to diagnose Hypomyelination with atrophy of basal ganglia and cerebellum ? | How might hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) be diagnosed? Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is diagnosed by a magnetic resonance imaging (MRI) scan of the brain. When the following three features are identified in the brain of an affected individual... |
What are the treatments for Hypomyelination with atrophy of basal ganglia and cerebellum ? | How might hypomelination with atrophy of basal ganglia and cerebellum (H-ABC) be treated? Unfortunately, there is no known cure for hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC). However, there is a case report of one patient's movement difficulties improving somewhat after he took the medicatio... |
What are the symptoms of Tuberous sclerosis, type 2 ? | What are the signs and symptoms of Tuberous sclerosis, type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Tuberous sclerosis, type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus... |
What is (are) Adenoid cystic carcinoma ? | Adenoid cystic carcinoma (ACC) is a rare form of adenocarcinoma, which is cancer that begins in gladular tissues. ACC most commonly arises in the head and neck, in various parts of the major and minor salivary glands including the palate, nasopharynx, lining of the mouth, voice box (larynx) or windpipe (trachea). It ca... |
What causes Adenoid cystic carcinoma ? | What causes adenoid cystic carcinoma? The underlying cause of adenoid cystic carcinoma (ACC) is not yet known, and no strong genetic or environmental risk factors specific to ACC have been identified. Researchers believe that a combination of various genetic and environmental factors probably interact to ultimately cau... |
Is Adenoid cystic carcinoma inherited ? | Is adenoid cystic carcinoma inherited? While the underlying cause of adenoid cystic carcinoma (ACC) is not known, no strong genetic risk factors have been identified. To our knowledge, only one case of apparent familial ACC has been reported worldwide. In this case, a father and daughter were both affected with ACC of ... |
What are the symptoms of Mandibuloacral dysplasia with type A lipodystrophy ? | What are the signs and symptoms of Mandibuloacral dysplasia with type A lipodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Mandibuloacral dysplasia with type A lipodystrophy. If the information is available, the table below includes how often the symptom is seen in people ... |
What is (are) Acromegaly ? | Acromegaly is a hormonal disorder that results from the pituitary gland producing too much growth hormone (GH). It is most often diagnosed in middle-aged adults, although symptoms can appear at any age. Signs and symptoms include abnormal growth and swelling of the hands and feet; bone changes that alter various facial... |
What are the symptoms of Acromegaly ? | What are the signs and symptoms of Acromegaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Acromegaly. 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 t... |
What are the symptoms of Orofaciodigital syndrome 8 ? | What are the signs and symptoms of Orofaciodigital syndrome 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Orofaciodigital syndrome 8. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus... |
What is (are) Spondylocostal dysostosis 1 ? | Spondylocostal dysostosis is a group of conditions characterized by abnormal development of the bones in the spine and ribs. In the spine, the vertebrae are misshapen and fused. Many people with this condition have an abnormal side-to-side curvature of the spine (scoliosis). The ribs may be fused together or missing. T... |
What are the symptoms of Spondylocostal dysostosis 1 ? | What are the signs and symptoms of Spondylocostal dysostosis 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylocostal dysostosis 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePl... |
What are the symptoms of Progeroid syndrome, Penttinen type ? | What are the signs and symptoms of Progeroid syndrome, Penttinen type? The Human Phenotype Ontology provides the following list of signs and symptoms for Progeroid syndrome, Penttinen type. 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) Lyme disease ? | Lyme disease is the most common tickborne infectious disease in the United States. Early signs and symptoms of the condition include fever, chills, muscle pain, headache, and joint pain. As the condition progresses, affected people may experience heart problems, Bell's palsy, arthritis, abnormal muscle movement, speech... |
What are the symptoms of Lyme disease ? | What are the signs and symptoms of Lyme disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Lyme disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look ... |
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 Galactose epimerase deficiency ? | What are the signs and symptoms of Galactose epimerase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Galactose epimerase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Med... |
What are the symptoms of Spastic paraplegia neuropathy poikiloderma ? | What are the signs and symptoms of Spastic paraplegia neuropathy poikiloderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia neuropathy poikiloderma. If the information is available, the table below includes how often the symptom is seen in people with this condit... |
What is (are) Achalasia ? | Achalasia is a disorder of the esophagus, the tube that carries food from the mouth to the stomach. It is characterized by enlargement of the esophagus, impaired ability of the esophagus to push food down toward the stomach (peristalsis), and failure of the ring-shaped muscle at the bottom of the esophagus (the lower e... |
What are the symptoms of Achalasia ? | What are the signs and symptoms of achalasia? Most people with achalasia experience difficulty swallowing, also known as dysphagia and heartburn. Other symptoms might include: regurgitation or vomiting, noncardiac chest pain, odynophagia (painful swallowing), and pain in the upper central region of the abdomen. Non eso... |
What causes Achalasia ? | What causes achalasia? The lower esophageal sphincter, the ring-shaped muscle at the bottom of the esophagus, normally relaxes during swallowing. In people with achalasia, this muscle ring does not relax as well. The reason for this problem is damage to the nerves of the esophagus. In some people, this problem appears ... |
How to diagnose Achalasia ? | How is achalasia diagnosed? Achalasia is suspected in individuals with dysphagia (difficulty swallowing) and in instances where regurgitation symptoms are not responsive to protein pump inhibitor medication. The diagnosis of achalasia is confirmed by manometry (test that measures how well the esophagus is working); ho... |
What are the treatments for Achalasia ? | How might achalasia be treated? The aim of treatment is to reduce the pressure at the lower esophageal sphincter. Therapy may involve: Injection with botulinum toxin (Botox) to help relax the sphincter muscles (used as a temporary fix) Medications, such as long-acting nitrates (i.e. isosorbide dinitrate) or calcium ch... |
What is (are) Disseminated superficial actinic porokeratosis ? | Disseminated superficial actinic porokeratosis (DSAP) is a skin condition that causes dry patches. It is characterized by a large number of small, brownish patches with a distinctive border, found most commonly on sun-exposed areas of the skin (particularly the arms and legs). DSAP usually starts during the third or fo... |
What are the symptoms of Disseminated superficial actinic porokeratosis ? | What are the signs and symptoms of Disseminated superficial actinic porokeratosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Disseminated superficial actinic porokeratosis. If the information is available, the table below includes how often the symptom is seen in people with thi... |
What is (are) Giant axonal neuropathy ? | Giant axonal neuropathy (GAN) is a neurodegenerative disorder characterized by abnormally large and dysfunctional axons (the specialized extensions of nerve cells that are required for the transmission of nerve impulses). The condition typically appears in infancy or early childhood with severe peripheral motor and sen... |
What are the symptoms of Giant axonal neuropathy ? | What are the signs and symptoms of Giant axonal neuropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Giant axonal neuropathy. 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 Spinal muscular atrophy type 3 ? | What are the signs and symptoms of Spinal muscular atrophy type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinal muscular atrophy 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 Med... |
What is (are) Pontocerebellar hypoplasia type 2 ? | Pontocerebellar hypoplasia type 2 (PCH2) is a rare condition that affects the development of the brain. Signs and symptoms vary but may include microcephaly, developmental delay with lack of voluntary motor development, intellectual disability and movement disorders (i.e. chorea, dystonia, and spasticity). Affected peo... |
What are the symptoms of Pontocerebellar hypoplasia type 2 ? | What are the signs and symptoms of Pontocerebellar hypoplasia type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Pontocerebellar hypoplasia type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... |
What are the symptoms of Glaucoma sleep apnea ? | What are the signs and symptoms of Glaucoma sleep apnea? The Human Phenotype Ontology provides the following list of signs and symptoms for Glaucoma sleep apnea. 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) Cholesteatoma ? | Cholesteatoma is a type of skin cyst located in the middle ear. It can be congenital (present from birth), but it more commonly occurs as a complication of chronic ear infection. The hallmark symptom is a painless discharge from the ear. Hearing loss, dizziness, and facial muscle paralysis are rare but can result from ... |
What are the symptoms of Cholesteatoma ? | What symptoms are associated with cholesteatoma? Early symptoms may include drainage from the ear, sometimes with a foul odor. As the cholesteatoma cyst or sac enlarges, it can lead to a full feeling or pressure in the ear, hearing loss, dizziness and pain, numbness or muscle weakness on one side of the face. On examin... |
What causes Cholesteatoma ? | What causes cholesteatoma? A cholesteatoma usually occurs because of poor eustachian tube function in conjunction with infection in the middle ear. Negative pressure within the middle ear pulls a part of the eardrum the wrong way, creating a sac or cyst that fills with old skin cells and other waste material. As the cy... |
What are the treatments for Cholesteatoma ? | How might cholesteatoma be treated? An examination by an otolaryngologist - a doctor who specializes in head and neck conditions - can confirm the presence of a cholesteatoma. Initial treatment may consist of a careful cleaning of the ear, antibiotics, and eardrops. Therapy aims to stop drainage in the ear by controll... |
What are the symptoms of Congenital disorder of glycosylation type I/IIX ? | What are the signs and symptoms of Congenital disorder of glycosylation type I/IIX? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital disorder of glycosylation type I/IIX. If the information is available, the table below includes how often the symptom is seen in people with t... |
What are the symptoms of Vertebral fusion posterior lumbosacral blepharoptosis ? | What are the signs and symptoms of Vertebral fusion posterior lumbosacral blepharoptosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Vertebral fusion posterior lumbosacral blepharoptosis. If the information is available, the table below includes how often the symptom is seen in p... |
What are the symptoms of Cataract-microcephaly-failure to thrive-kyphoscoliosis ? | What are the signs and symptoms of Cataract-microcephaly-failure to thrive-kyphoscoliosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract-microcephaly-failure to thrive-kyphoscoliosis. If the information is available, the table below includes how often the symptom is seen in... |
What is (are) Microhydranencephaly ? | Microhydranencephaly is a developmental abnormality that affects the brain. Signs and symptoms may include extreme microcephaly, scalp rugae (a series of ridges), profound developmental delay and severe intellectual disability. Imaging studies of the brain generally reveal incomplete brain formation and severe hydrocep... |
What are the symptoms of Microhydranencephaly ? | What are the signs and symptoms of Microhydranencephaly? Microhydranencephaly is a developmental abnormality that affects the brain. Signs and symptoms can vary but generally include: Extreme microcephaly Scalp rugae (a series of ridges) Profound developmental delay Severe intellectual disability Spasticity Imaging stu... |
What causes Microhydranencephaly ? | What causes microhydranencephaly? In many cases, the exact, underlying cause of microhydranencephaly is unknown. There are reports of families in which the condition is caused by changes (mutations) in the NDE1 gene. In these rare cases, more than one family member (often a pair of siblings) had the condition. |
Is Microhydranencephaly inherited ? | Is microhydranencephaly inherited? Most cases of microhydranencephaly occur sporadically in people with no family history of the condition. However, the condition can rarely affect more than one family member and be inherited in an autosomal recessive manner. In these cases, an affected person must have a mutation in b... |
How to diagnose Microhydranencephaly ? | How is microhydranencephaly diagnosed? A diagnosis of microhydranencephaly is generally suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This generally consists of imaging studies to evaluate the brain for structural abnormalities and... |
What are the symptoms of Reticular dysgenesis ? | What are the signs and symptoms of Reticular dysgenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Reticular dysgenesis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dic... |
What is (are) Neurocutaneous melanosis ? | Neurocutaneous melanosis (NCM) is a rare, non-inherited condition of the central nervous system. It is characterized by melanocytic nevi in both the skin and the brain. Two-thirds of people with NCM have giant congenital melanocytic nevi, and the remaining one-third have numerous lesions but no giant lesions. Most pati... |
What are the symptoms of Neurocutaneous melanosis ? | What are the signs and symptoms of Neurocutaneous melanosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Neurocutaneous melanosis. 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 Med... |
What are the symptoms of Lopes Gorlin syndrome ? | What are the signs and symptoms of Lopes Gorlin syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lopes Gorlin 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 D... |
What is (are) Catamenial pneumothorax ? | Catamenial pneumothorax is an extremely rare condition that affects women. Pneumothorax is the medical term for a collapsed lung, a condition in which air or gas is trapped in the space surrounding the lungs causing the lungs to collapse. Women with catamenial pneumothorax have recurrent episodes of pneumothorax that o... |
What are the symptoms of Catamenial pneumothorax ? | What are the signs and symptoms of Catamenial pneumothorax? The Human Phenotype Ontology provides the following list of signs and symptoms for Catamenial 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 Medic... |
What causes Catamenial pneumothorax ? | What causes catamenial pneumothorax? The exact cause is not known. However, spontaneous collapse of the lung (pneumothorax) occurs in 72% to 73% of cases of thoracic endometriosis. Thoracic endometriosis is a condition in which endometrial tissue is present in the chest (thoracic) cavity. It is more often seen in women... |
How to diagnose Catamenial pneumothorax ? | How might catamenial pneumothorax be diagnosed? The diagnosis should be suspected in women of reproductive age who have several episodes of spontaneous lung collapse (pneumothoraces) and have endometriosis. Medical thoracoscopy or video-assisted thoracoscopy may confirm the diagnosis. |
What are the treatments for Catamenial pneumothorax ? | How might catamenial pneumothorax be treated? Treatment of choice is with surgery, with video-assisted thoracoscopic surgery (VATS). Conventional thoracotomy may be occasionally necessary, particularly in repeat operations. It is very important to examine the large, thin tissue lining around the outside of the lungs an... |
What is (are) Moebius syndrome ? | Moebius syndrome is a rare neurological condition that primarily affects the muscles that control facial expression and eye movement. Signs and symptoms of the condition may include weakness or paralysis of the facial muscles; feeding, swallowing, and choking problems; excessive drooling; crossed eyes; lack of facial e... |
What are the symptoms of Moebius syndrome ? | What are the signs and symptoms of Moebius syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Moebius 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 ... |
Is Moebius syndrome inherited ? | Is Moebius syndrome inherited? Most cases of Moebius syndrome are not inherited and occur as isolated cases in individuals with no history of the condition in their family (sporadically). A small percentage of cases of Moebius syndrome have been familial (occurring in more than one individual in a family), but there ha... |
What are the symptoms of Zori Stalker Williams syndrome ? | What are the signs and symptoms of Zori Stalker Williams syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Zori Stalker Williams 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 Med... |
What is (are) Poland syndrome ? | Poland syndrome is characterized by an underdeveloped or absent chest muscle on one side of the body, absence of the breastbone portion (sternal) of the chest muscle, and webbing of the fingers of the hand on the same side. The cause of Poland syndrome is not known. This syndrome is nearly always sporadic. It tends to ... |
What are the symptoms of Poland syndrome ? | What are the signs and symptoms of Poland syndrome? Signs and symptoms of Poland syndrome may be slight to severe. Some people with Poland syndrome have only absence of the breast tissue, while others may be missing all or part of the chest muscle and underlying ribs. Symptoms tend to occur on one side of the body. Bel... |
What causes Poland syndrome ? | What causes Poland syndrome? The cause of Poland syndrome is unknown. Most evidence supports the idea that something abnormal happens during the sixth week of fetal development. This event most likely involves the vascular (blood and lymph) system. Speculations include: An interruption of the embryonic blood supply of ... |
Is Poland syndrome inherited ? | Is Poland syndrome inherited? Poland syndrome is rarely inherited and generally sporadic. Sporadic refers to the chance occurrence of a non-genetic disorder or abnormality that is not likely to recur in a family. In the few reported familial cases, researchers suggest that the condition may have stemmed from an inherit... |
How to diagnose Poland syndrome ? | When is Poland syndrome typically first diagnosed? The severity of Poland syndrome differs from person to person. As a result it is not often diagnosed or reported. Sometimes, a person does not realize they have the condition until puberty, when lopsided (asymmetrical) growth makes it more obvious. |
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