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What is (are) Lujan syndrome ? | Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and poor muscle tone (hypotonia). Affected people also tend to have characteristic physical features such as a tall and thin body; a large head (macrocephaly); and a thin face with distinctive facial features (prominent top of ... |
What are the symptoms of Lujan syndrome ? | What are the signs and symptoms of Lujan syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lujan 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 l... |
What are the symptoms of Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity ? | What are the signs and symptoms of Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity? The Human Phenotype Ontology provides the following list of signs and symptoms for Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and o... |
What are the symptoms of Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet ? | What are the signs and symptoms of Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet? The Human Phenotype Ontology provides the following list of signs and symptoms for Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet. If the i... |
What are the symptoms of Stratton-Garcia-Young syndrome ? | What are the signs and symptoms of Stratton-Garcia-Young syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Stratton-Garcia-Young 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 are the symptoms of Microcephaly deafness syndrome ? | What are the signs and symptoms of Microcephaly deafness syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly deafness 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) Bartter syndrome ? | Bartter syndrome is a group of similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and other molecules in the body. In some cases, the condition manifests before birth with increased amniotic fluid surrounding the affected fetus (polyhydramnios). Affected infants typically do not grow and g... |
What are the symptoms of Bartter syndrome ? | What are the signs and symptoms of Bartter syndrome? The signs and symptoms associated with Bartter syndrome can vary depending on the form of Bartter syndrome an affected individual has. The antenatal forms (beginning before birth) can be life-threatening, while the classical form, beginning in early childhood, tends ... |
What causes Bartter syndrome ? | What causes Bartter syndrome? Bartter syndrome may be caused by mutations in any one of several genes; the genetic cause in each case corresponds to the type of Bartter syndrome each affected individual has. Types I, II and IV typically result in the antenatal forms of Bartter syndrome (beginning before birth) while ty... |
Is Bartter syndrome inherited ? | How is Bartter syndrome inherited? Bartter syndrome is inherited in an autosomal recessive manner, which means that both copies of the disease-causing gene (one inherited from each parent) have a mutation in an affected individual. Parents who each carry one mutated copy of the gene are referred to as carriers and typi... |
How to diagnose Bartter syndrome ? | How is Bartter syndrome diagnosed? Bartter syndrome is usually diagnosed after a combination of tests are performed on an individual with the signs and symptoms of the condition. Blood test results in an affected individual typically show low blood potassium levels (with normal blood pressure); low blood chloride level... |
What are the treatments for Bartter syndrome ? | How might Bartter syndrome be treated? Treatment of Bartter syndrome depends on the type of the syndrome that the affected individual has, but it primarily focuses on preventing the loss of too much of potassium from the body. This may include oral potassium (K) supplements, medication such as indomethacin, and potassi... |
What are the symptoms of Sjogren-Larsson-like syndrome ? | What are the signs and symptoms of Sjogren-Larsson-like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sjogren-Larsson-like 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 Medli... |
What is (are) Familial prostate cancer ? | Familial prostate cancer is a cluster of prostate cancer within a family. Most cases of prostate cancer occur sporadically in people with no family history of the condition. However, approximately 5% to 10% of prostate cancer cases are believed to be primarily caused by a genetic predisposition to the condition. In man... |
What are the symptoms of Familial prostate cancer ? | What are the signs and symptoms of Familial prostate cancer? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial prostate cancer. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Med... |
What are the symptoms of Coloboma, cleft lip/palate and mental retardation syndrome ? | What are the signs and symptoms of Coloboma, cleft lip/palate and mental retardation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Coloboma, cleft lip/palate and mental retardation syndrome. If the information is available, the table below includes how often the symptom is... |
What are the symptoms of Myasthenia gravis, limb-girdle ? | What are the signs and symptoms of Myasthenia gravis, limb-girdle? The Human Phenotype Ontology provides the following list of signs and symptoms for Myasthenia gravis, limb-girdle. 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) Spondylospinal thoracic dysostosis ? | Spondylospinal thoracic dysostosis is an extremely rare skeletal disorder characterized by a short, curved spine and fusion of the spinous processes, short thorax with 'crab-like' configuration of the ribs, underdevelopment of the lungs (pulmonary hypoplasia), severe arthrogryposis and multiple pterygia (webbing of the... |
What are the symptoms of Spondylospinal thoracic dysostosis ? | What are the signs and symptoms of Spondylospinal thoracic dysostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylospinal thoracic dysostosis. 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) Galloway-Mowat syndrome ? | Galloway-Mowat syndrome is a rare, neurodegenerative disorder characterized by various developmental and physical abnormalities. Signs and symptoms may include small head size (microcephaly); developmental delay; seizures; nephrotic syndrome; hiatal hernia; optic atrophy; movement disorders; and intellectual disability... |
What are the symptoms of Galloway-Mowat syndrome ? | What are the signs and symptoms of Galloway-Mowat syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Galloway-Mowat 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... |
Is Galloway-Mowat syndrome inherited ? | How is Galloway-Mowat syndrome inherited? Galloway-Mowat syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as... |
How to diagnose Galloway-Mowat syndrome ? | Is genetic testing available for Galloway-Mowat syndrome? Yes. The Genetic Testing Registry (GTR) provides information about the labs that offer clinical genetic testing for Galloway-Mowat syndrome. While it is known to be caused by mutations in the WDR73 gene, it has been suggested that other, unidentified genes may a... |
What is (are) Cerebellar degeneration ? | Cerebellar degeneration refers to the deterioration of neurons in the cerebellum (the area of the brain that controls muscle coordination and balance). Conditions that cause cerebellar degeneration may also affect other areas of the central nervous system, such as the spinal cord, the cerebral cortex, and the brain ste... |
What are the symptoms of Cerebellar degeneration ? | What are the signs and symptoms of cerebellar degeneration? Cerebellar degeneration is primarily characterized by a wide-legged, unsteady, lurching walk that is usually accompanied by a back and forth tremor in the trunk of the body. Other signs and symptoms may include slow, unsteady and jerky movement of the arms or ... |
What causes Cerebellar degeneration ? | What causes cerebellar degeneration? Cerebellar degeneration can be caused by a variety of different conditions. Neurological diseases that can lead to cerebellar degeneration include: Acute and hemorrhagic stroke can result in a lack of blood flow or oxygen to the brain, leading to the death of neurons in the cerebell... |
Is Cerebellar degeneration inherited ? | Is cerebellar degeneration inherited? Cerebellar degeneration is associated with a variety of inherited and non-inherited conditions. One example of an inherited form of cerebellar degeneration is spinocerebellar ataxia (SCA), which refers to a group of conditions characterized by degenerative changes of the cerebellum... |
How to diagnose Cerebellar degeneration ? | How is cerebellar degeneration diagnosed? A diagnosis of cerebellar degeneration is often suspected when concerning signs and symptoms, such as a poorly coordinated gait (walk) and uncoordinated hand/finger movements, are present. For hereditary forms of cerebellar degeneration, genetic testing may be used to confirm t... |
What are the treatments for Cerebellar degeneration ? | How might cerebellar degeneration be treated? There is currently no cure for hereditary forms of cerebellar degeneration. In these cases, treatment is usually supportive and based on the signs and symptoms present in each person. For example, a variety of drugs may be used to treat gait abnormalities. Physical therapy ... |
What are the symptoms of Partial agenesis of corpus callosum ? | What are the signs and symptoms of Partial agenesis of corpus callosum? The Human Phenotype Ontology provides the following list of signs and symptoms for Partial agenesis of corpus callosum. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... |
What are the symptoms of Dihydropyrimidinase deficiency ? | What are the signs and symptoms of Dihydropyrimidinase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Dihydropyrimidinase 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 is (are) Peutz-Jeghers syndrome ? | Peutz-Jeghers syndrome (PJS) is an inherited condition that is associated with an increased risk of growths along the lining of the gastrointestinal tract (called hamartomatous polyps) and certain types of cancer. Most affected people also have characteristic dark blue to dark brown macules around the mouth, eyes, and ... |
What are the symptoms of Peutz-Jeghers syndrome ? | What are the signs and symptoms of Peutz-Jeghers syndrome? Peutz-Jeghers syndrome (PJS) is characterized primarily by an increased risk of growths along the lining of the gastrointestinal tract (called hamartomatous polyps) and certain types of cancer. Polyps are most commonly seen in the small intestines; however, the... |
What causes Peutz-Jeghers syndrome ? | What causes Peutz-Jeghers syndrome? Peutz-Jeghers syndrome (PJS) is caused by changes (mutations) in the STK11 gene. STK11 is a tumor suppressor gene which means that it encodes a protein that helps keep cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in STK11 result in a defective prot... |
Is Peutz-Jeghers syndrome inherited ? | Is Peutz-Jeghers syndrome inherited? Peutz-Jeghers syndrome (PJS) is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other... |
How to diagnose Peutz-Jeghers syndrome ? | Is genetic testing available for Peutz-Jeghers syndrome? Yes, genetic testing is available for STK11, the gene known to cause Peutz-Jeghers syndrome. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. The Genetic Testing Registry (GTR) is a ce... |
What are the symptoms of Uhl anomaly ? | What are the signs and symptoms of Uhl anomaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Uhl anomaly. 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... |
What is (are) Bell's palsy ? | Bell's palsy is a form of temporary facial paralysis which results from damage or trauma to one of the facial nerves. This disorder is characterized by the sudden onset of facial paralysis that often affects just one side and can cause significant facial distortion. Symptoms vary, but may include twitching, weakness, d... |
What are the symptoms of Bell's palsy ? | What are the symptoms of Bell's palsy? |
What causes Bell's palsy ? | What causes Bell's palsy? |
What are the treatments for Bell's palsy ? | How might Bell's palsy be treated? |
What are the symptoms of Spastic paraplegia 2 ? | What are the signs and symptoms of Spastic paraplegia 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dic... |
What is (are) Light chain deposition disease ? | Light chain deposition disease (LCDD) involves the immune system, the body's system of protecting ourselves against infection. The body fights infection with antibodies. Antibodies are made up of small protein segments called light chains and heavy chains. People with LCDD make too many light chains which get deposite... |
Is Light chain deposition disease inherited ? | Is light chain deposition disease a genetic/inheritable disease? Currently, we are not aware of inherited genes or genetic factors that would increase a persons risk for developing light chain deposition disease. You can read more about risk factors for multiple myeloma and monoclonal gammopathy of undetermined signifi... |
What are the symptoms of Prosopagnosia, hereditary ? | What are the signs and symptoms of Prosopagnosia, hereditary? The Human Phenotype Ontology provides the following list of signs and symptoms for Prosopagnosia, hereditary. 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 Gastroschisis ? | What are the signs and symptoms of Gastroschisis? The Human Phenotype Ontology provides the following list of signs and symptoms for Gastroschisis. 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) Diabetes mellitus type 1 ? | Diabetes mellitus type 1 (DM1) is a condition in which cells in the pancreas (beta cells) stop producing insulin, causing abnormally high blood sugar levels. Lack of insulin results in the inability of the body to use glucose for energy and control the amount of sugar in the blood. DM1 can occur at any age, but usually... |
What are the symptoms of Diabetes mellitus type 1 ? | What are the signs and symptoms of Diabetes mellitus type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Diabetes mellitus type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Med... |
Is Diabetes mellitus type 1 inherited ? | Is diabetes mellitus type 1 inherited? Diabetes mellitus type 1 (DM1) itself is not inherited, but a predisposition to developing the condition can run in families. While some people with a family history of DM1 may be at an increased risk, most will not have the condition. While the exact cause is not known, some gene... |
What are the symptoms of Beukes familial hip dysplasia ? | What are the signs and symptoms of Beukes familial hip dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Beukes familial hip dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli... |
What are the symptoms of Late-onset retinal degeneration ? | What are the signs and symptoms of Late-onset retinal degeneration? The Human Phenotype Ontology provides the following list of signs and symptoms for Late-onset retinal degeneration. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the M... |
What are the symptoms of Neonatal adrenoleukodystrophy ? | What are the signs and symptoms of Neonatal adrenoleukodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Neonatal adrenoleukodystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli... |
What is (are) Autoimmune gastrointestinal dysmotility ? | Autoimmune gastrointestinal dysmotility (AGID) is a rare form of autoimmune autonomic neuropathy that can occur either due to an idiopathic cause or a paraneoplastic cause. Idiopathic forms of AGID are a manifestation of autoimmune autonomic neuropathy that affects the digestive nervous system. The signs and symptoms o... |
What is (are) Lupus nephritis ? | Lupus nephritis is a kidney disorder that is a complication of systemic lupus erythematous (SLE), commonly known as lupus. The symptoms of lupus nephritis include blood in the urine, a foamy appearance to the urine, high blood pressure, and swelling in any part of the body. This condition typically occurs in people age... |
What is (are) Linear scleroderma ? | Linear scleroderma is one sub-type of localized scleroderma, most commonly occurring in childhood. It is characterized by abnormalities of the skin and subcutaneous tissues that often follow a dermatomal distribution and that are found on one side of the body. Besides the lesion in the face or scalp there are also abn... |
What is (are) Pudendal Neuralgia ? | Pudendal neuralgia occurs when the pudendal nerve is injured or compressed. Symptoms include pain, burning, tingling, or numbness in the pelvic or buttock areas; symptoms worsen while an affected individual is in a sitting position. The cause of pudendal neuralgia is unknown. Treatment includes nerve block of the pu... |
What are the treatments for Pudendal Neuralgia ? | What treatments are available for pudendal neuralgia? There are no established guidelines for the treatment of pudendal neuralgia. Treatment may include medications, the use of a specialized cushion while sitting, nerve block, surgery to remove nearby tissues that may be pressing on the pudendal nerve, or nerve stimul... |
What are the symptoms of Kaplan Plauchu Fitch syndrome ? | What are the signs and symptoms of Kaplan Plauchu Fitch syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kaplan Plauchu Fitch 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 Medli... |
What are the symptoms of Faciomandibular myoclonus, nocturnal ? | What are the signs and symptoms of Faciomandibular myoclonus, nocturnal? The Human Phenotype Ontology provides the following list of signs and symptoms for Faciomandibular myoclonus, nocturnal. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... |
What are the symptoms of Paget disease of bone, familial ? | What are the signs and symptoms of Paget disease of bone, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Paget disease of bone, familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the M... |
What are the symptoms of Maturity-onset diabetes of the young, type 1 ? | What are the signs and symptoms of Maturity-onset diabetes of the young, type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Maturity-onset diabetes of the young, type 1. 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 Pulmonary edema of mountaineers ? | What are the signs and symptoms of Pulmonary edema of mountaineers? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary edema of mountaineers. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the M... |
What is (are) Plasminogen activator inhibitor type 1 deficiency ? | Plasminogen activator inhibitor type 1 (PAI-1) deficiency a rare disorder that causes premature breakdown of blood clots and a moderate bleeding syndrome. While spontaneous bleeding is rare, moderate hemorrhages of the knees, elbows, nose and gums may be triggered by mild trauma. In females, menstrual bleeding is often... |
What are the symptoms of Plasminogen activator inhibitor type 1 deficiency ? | What are the signs and symptoms of Plasminogen activator inhibitor type 1 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Plasminogen activator inhibitor type 1 deficiency. If the information is available, the table below includes how often the symptom is seen in people wi... |
What are the symptoms of Intellectual deficit - short stature - hypertelorism ? | What are the signs and symptoms of Intellectual deficit - short stature - hypertelorism? The Human Phenotype Ontology provides the following list of signs and symptoms for Intellectual deficit - short stature - hypertelorism. If the information is available, the table below includes how often the symptom is seen in peo... |
What are the symptoms of Otofaciocervical syndrome ? | What are the signs and symptoms of Otofaciocervical syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Otofaciocervical 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 M... |
What is (are) Children's interstitial lung disease ? | Children's interstitial and diffuse lung disease (chILD) is not a single condition, but a group of rare lung diseases found in infants, children and adolescents that can range from mild to severe. All types of chILD decrease a child's ability to supply oxygen to their body. These diseases make it difficult for the lu... |
What are the treatments for Children's interstitial lung disease ? | How might chILD be treated? There is no single treatment for interstitial lung diseases in children. Different forms of chILD require different treatments and support depending on the condition. The goals of treatment for chILD is to relieve symptoms, provide support to maximize growth and development, and to prevent ... |
What are the symptoms of X-linked Charcot-Marie-Tooth disease type 3 ? | What are the signs and symptoms of X-linked Charcot-Marie-Tooth disease type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked Charcot-Marie-Tooth disease type 3. If the information is available, the table below includes how often the symptom is seen in people with this cond... |
What are the symptoms of Melanoma astrocytoma syndrome ? | What are the signs and symptoms of Melanoma astrocytoma syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Melanoma astrocytoma 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 Medli... |
What is (are) FG syndrome ? | FG syndrome (FGS) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. "FG" represents the surname initials of the first individuals diagnosed with the disorder. People with FG syndrome frequently have intellectual disability ranging from mild to severe, hypotonia, constipa... |
What are the symptoms of FG syndrome ? | What are the signs and symptoms of FG syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for FG 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... |
What are the treatments for FG syndrome ? | How might FG syndrome be treated? Treatment is aimed at addressing the individual symptoms present in each case. This often involves care by a team of providers which may include pediatricians, neurologists, cardiologists, surgeons, gastroenterologists, and psychologists. Early intervention and special education servic... |
What is (are) Hereditary sensory and autonomic neuropathy ? | Hereditary sensory autonomic neuropathy (HSAN) is a group of rare peripheral neuropathies where neurons and/or axons are affected. The major feature of these conditions is the loss of large myelinated and unmyelinated fibers. Myelin is an insulating layer, or sheath that forms around nerves, made up of protein and fatt... |
What is (are) Spondyloepiphyseal dysplasia Maroteaux type ? | Spondyloepiphyseal dysplasia (SED) Maroteaux type is a rare skeletal dysplasia that is characterized by short stature beginning in infancy, short, stubby hands and feet, and genu valgum (knock knees). In addition to these physical characteristics, individuals with SED Maroteaux type have some common radiographic findin... |
What are the symptoms of Spondyloepiphyseal dysplasia Maroteaux type ? | What are the signs and symptoms of Spondyloepiphyseal dysplasia Maroteaux type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepiphyseal dysplasia Maroteaux type. If the information is available, the table below includes how often the symptom is seen in people with this cond... |
What is (are) Focal dystonia ? | Focal dystonia is a movement disorder that is localized to a specific part of the body. The dystonias are a group of movement problems characterized by involuntary, sustained muscle contractions, tremors, and other uncontrolled movements. Focal task-specific dystonia, or FTSD, interferes with the performance of particu... |
What are the symptoms of Focal dystonia ? | What are the signs and symptoms of Focal dystonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Focal 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 l... |
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 are the symptoms of Anterior polar cataract 2 ? | What are the signs and symptoms of Anterior polar cataract 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Anterior polar cataract 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 M... |
What is (are) Polymicrogyria ? | Polymicrogyria is a condition characterized by abnormal development of the brain before birth. Specifically, the surface of the brain develops too many folds which are unusually small. The signs and symptoms associated with the condition vary based on how much of the brain and which areas of the brain are affected; how... |
What are the symptoms of Renal hamartomas nephroblastomatosis and fetal gigantism ? | What are the signs and symptoms of Renal hamartomas nephroblastomatosis and fetal gigantism? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal hamartomas nephroblastomatosis and fetal gigantism. If the information is available, the table below includes how often the symptom is see... |
What is (are) Childhood ovarian cancer ? | Childhood ovarian cancer is a rare type of cancer that occurs due to abnormal and uncontrolled cell growth in the ovaries. The childhood form, specifically, is extremely rare and accounts for less than 5% of all ovarian cancer cases. The most common types of ovarian cancers diagnosed in children and adolescents include... |
What is (are) Sudden infant death syndrome ? | Sudden infant death syndrome (SIDS) is the unexpected, sudden death of a child under age 1 which cannot be explained after a thorough investigation is conducted. Infants who are affected by the condition generally appear healthy with no suspicious signs and symptoms prior to the incident. It is the leading cause of dea... |
What are the symptoms of Sudden infant death syndrome ? | What are the signs and symptoms of Sudden infant death syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sudden infant death 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 are the symptoms of Marden Walker like syndrome ? | What are the signs and symptoms of Marden Walker like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Marden Walker like 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 MedlinePl... |
What are the symptoms of Tricho-dento-osseous syndrome 1 ? | What are the signs and symptoms of Tricho-dento-osseous syndrome 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Tricho-dento-osseous syndrome 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 M... |
What is (are) Sialadenitis ? | Sialadenitis is an infection of the salivary glands. It is usually caused by a virus or bacteria. The parotid (in front of the ear) and submandibular (under the chin) glands are most commonly affected. Sialadenitis may be associated with pain, tenderness, redness, and gradual, localized swelling of the affected area. T... |
What are the symptoms of Sialadenitis ? | What are the signs and symptoms of sialadenitis? Signs and symptoms of sialadenitis may include fever, chills, and unilateral pain and swelling in the affected area. The affected gland may be firm and tender, with redness of the overlying skin. Pus may drain through the gland into the mouth. |
What causes Sialadenitis ? | What causes sialadenitis? Sialadenitis usually occurs after hyposecretion (reduced flow from the salivary glands) or duct obstruction, but may develop without an obvious cause. Saliva flow can be reduced in people who are sick or recovering from surgery, or people who are dehydrated, malnourished, or immunosuppressed. ... |
What are the treatments for Sialadenitis ? | How might sialadenitis be treated? The initial treatment for sialadenitis is antibiotics active against S. aureus. Hydration, ingesting things that trigger saliva flow (such as lemon juice or hard candy), warm compresses, gland massage, and good oral hygiene are also important. Abscesses need to be drained. Occasionall... |
What are the symptoms of Paralysis agitans, juvenile, of Hunt ? | What are the signs and symptoms of Paralysis agitans, juvenile, of Hunt? The Human Phenotype Ontology provides the following list of signs and symptoms for Paralysis agitans, juvenile, of Hunt. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... |
What are the symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type C ? | What are the signs and symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type C? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type C. If the information is available, the table below includes how ofte... |
What are the symptoms of Waardenburg syndrome type 2B ? | What are the signs and symptoms of Waardenburg syndrome type 2B? The Human Phenotype Ontology provides the following list of signs and symptoms for Waardenburg syndrome type 2B. 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) Juvenile amyotrophic lateral sclerosis ? | Juvenile amyotrophic lateral sclerosis (ALS) is a type of motor neuron disease which leads to problems with muscle control and movement. Signs and symptoms of juvenile ALS tend to present by age 25 years or younger. Unlike other types of ALS, juvenile ALS is not rapidly progressive. People with juvenile ALS can have a... |
What are the symptoms of Juvenile amyotrophic lateral sclerosis ? | What are the signs and symptoms of juvenile amyotrophic lateral sclerosis? Signs and symptoms of juvenile ALS vary but include slowly to very slowly progressive muscle weakness, increased muscle tone, Babinski reflex, muscle spasm (clonus), exaggerated reflexes, muscle wasting, and muscle twitching. Juvenile ALS usuall... |
What causes Juvenile amyotrophic lateral sclerosis ? | What causes juvenile amyotrophic lateral sclerosis? Juvenile amyotrophic lateral sclerosis (ALS) is often genetic and may be caused by mutations in the ALS2 or SETX genes. In some cases the underlying gene abnormality cannot be determined. Juvenile ALS may be inherited in an autosomal dominant (as in ALS type 4) or aut... |
What are the treatments for Juvenile amyotrophic lateral sclerosis ? | How might juvenile amyotrophic lateral sclerosis be treated? Treatments and therapies are available to relieve symptoms and improve the quality of life of people with juvenile ALS. Medications, such as those that reduce fatigue and ease muscle cramps are available. Physical therapy and special equipment can be helpful.... |
What is (are) Tracheoesophageal fistula ? | Tracheoesophageal fistula (TEF) is a life-threatening condition in which there is an abnormal connection between the esophagus and trachea (windpipe). The esophagus and trachea run next to each other through the chest cavity. The esophagus carries food and saliva to the stomach, while the trachea carries air to the lun... |
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