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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... | Cerebellar degeneration |
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... | Cerebellar degeneration |
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... | Cerebellar degeneration |
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 ... | Cerebellar degeneration |
What are the symptoms of 17-alpha-hydroxylase deficiency ? | What are the signs and symptoms of 17-alpha-hydroxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for 17-alpha-hydroxylase 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 M... | 17-alpha-hydroxylase deficiency |
What are the symptoms of Deafness enamel hypoplasia nail defects ? | What are the signs and symptoms of Deafness enamel hypoplasia nail defects? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness enamel hypoplasia nail defects. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | Deafness enamel hypoplasia nail defects |
What are the symptoms of Charcot-Marie-Tooth disease with ptosis and parkinsonism ? | What are the signs and symptoms of Charcot-Marie-Tooth disease with ptosis and parkinsonism? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease with ptosis and parkinsonism. If the information is available, the table below includes how often the symptom is see... | Charcot-Marie-Tooth disease with ptosis and parkinsonism |
What is (are) Chordoma ? | A chordoma is a rare tumor that develops from cells of the notochord, a structure that is present in the developing embryo and is important for the development of the spine. The notochord usually disappears before birth, though a few cells may remain embedded in the bones of the spine or at the base of the skull. Chor... | Chordoma |
What are the symptoms of Chordoma ? | What are the signs and symptoms of Chordoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Chordoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the d... | Chordoma |
What are the treatments for Chordoma ? | How might a chordoma be treated? Unfortunately, because chordomas are quite rare, the best treatment for these tumors has yet to be determined. The current treatment for chordoma of the clivus often begins with surgery (resection) to remove as much of the tumor as possible. The extent of surgery, or the amount of tum... | Chordoma |
What are the symptoms of Charcot-Marie-Tooth type 1 aplasia cutis congenita ? | What are the signs and symptoms of Charcot-Marie-Tooth type 1 aplasia cutis congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth type 1 aplasia cutis congenita. If the information is available, the table below includes how often the symptom is seen in people ... | Charcot-Marie-Tooth type 1 aplasia cutis congenita |
What is (are) Pseudopelade of Brocq ? | Pseudopelade of Brocq (PBB) is a slowly progressive, chronic condition characterized by scarring hair loss (cicatricial alopecia). There exists some controversy as to whether PBB is a distinct condition or the common final stage or variant of several different forms of scarring alopecias such as discoid lupus erythemat... | Pseudopelade of Brocq |
What are the symptoms of Pseudopelade of Brocq ? | What are the signs and symptoms of Pseudopelade of Brocq? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudopelade of Brocq. 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... | Pseudopelade of Brocq |
What are the treatments for Pseudopelade of Brocq ? | Is there treatment or a cure for pseudopelade of Brocq? Neither an effective treatment nor cure has been identified for pseudopelade of Brocq. Unfortunately, even when treatment relieves the symptoms and signs, the progression of hair loss may continue. The choice of treatment prescribed varies from person to person a... | Pseudopelade of Brocq |
What is (are) Lentigo maligna melanoma ? | Lentigo maligna melanoma (LMM) is a type of skin cancer that usually develops in older, fair-skinned adults. The average age of diagnosis is 65. LMM is thought to be caused by a history of sun exposure to the affected area. Treatment includes surgery to remove as much of the LMM as possible. | Lentigo maligna melanoma |
What are the symptoms of Congenital lipoid adrenal hyperplasia ? | What are the signs and symptoms of Congenital lipoid adrenal hyperplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital lipoid adrenal hyperplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | Congenital lipoid adrenal hyperplasia |
What is (are) Renal oncocytoma ? | Renal oncocytoma is a benign (noncancerous) growth of the kidney. They generally do not cause any signs or symptoms and are often discovered incidentally (by chance) while a person is undergoing diagnostic imaging for other conditions. Some people with renal oncocytoma will have abdominal or flank pain; blood in the ur... | Renal oncocytoma |
What are the symptoms of Renal oncocytoma ? | What are the signs and symptoms of Renal oncocytoma? Most people with a renal oncocytoma do not have any signs or symptoms. In fact, these tumors are often discovered incidentally (by chance) while a person is undergoing diagnostic imaging for other conditions. In about a third of cases, people with renal oncocytoma wi... | Renal oncocytoma |
What causes Renal oncocytoma ? | What causes a renal oncocytoma? The exact underlying cause of most renal oncocytomas is unknown. However, researchers suspect that acquired (not present at birth) changes in mitochondrial DNA may play a role in the development of some of these tumors. Renal oncocytomas sometimes occur in people with certain genetic syn... | Renal oncocytoma |
Is Renal oncocytoma inherited ? | Is a renal oncocytoma inherited? Most renal oncocytomas are not inherited. They usually occur sporadically in people with no family history of tumors. However, in rare cases, they can occur in people with certain genetic syndromes such as tuberous sclerosis complex and Birt-Hogg-Dube syndrome. Both of these conditions... | Renal oncocytoma |
How to diagnose Renal oncocytoma ? | How is renal oncocytoma diagnosed? A diagnosis of renal oncocytoma is often suspected based on imaging studies such as computed tomography (CT scan) and/or magnetic resonance imaging (MRI scan). However, it can be difficult to differentiate a renal oncocytoma from renal cell carcinoma based on imaging studies alone. Al... | Renal oncocytoma |
What are the treatments for Renal oncocytoma ? | How might renal oncocytoma be treated? Most renal oncocytomas are benign (non-cancerous) and metastasis is very rare. Although many benign tumors do not require treatment unless they are causing unpleasant symptoms, it can be difficult to confidently differentiate a renal oncocytoma from renal cell carcinoma based on d... | Renal oncocytoma |
What is (are) Factor XIII deficiency ? | Factor XIII deficiency is an extremely rare inherited blood disorder characterized by abnormal blood clotting that may result in abnormal bleeding. Signs and symptoms occur as the result of a deficiency in the blood clotting factor 13, which is responsible for stabilizing the formation of a blood clot. In affected indi... | Factor XIII deficiency |
What are the symptoms of Factor XIII deficiency ? | What are the signs and symptoms of Factor XIII deficiency? Factor XIII deficiency causes internal bleeding. The blood may seep into surrounding soft tissues several days after trauma, even mild trauma such as a bump or bruise. Pain and swelling may occur at the injury site prior to bleeding. If the bleeding continues, ... | Factor XIII deficiency |
What are the treatments for Factor XIII deficiency ? | How might factor XIII be treated? The amount of Factor XIII necessary for a normal response to trauma is only about 10 percent of that in the normal plasma. People with Factor XIII deficiency are generally given small infusions of fresh or frozen blood plasma (cryoprecipitates), or Factor XIII concentrates every three ... | Factor XIII deficiency |
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... | Stratton-Garcia-Young syndrome |
What are the symptoms of Dystonia 19 ? | What are the signs and symptoms of Dystonia 19? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 19. 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... | Dystonia 19 |
What are the symptoms of Varicella virus antenatal infection ? | What are the signs and symptoms of Varicella virus antenatal infection? The Human Phenotype Ontology provides the following list of signs and symptoms for Varicella virus antenatal infection. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | Varicella virus antenatal infection |
What is (are) Primary gastrointestinal melanoma ? | Primary melanoma of the gastrointestinal (GI) tract refers to a melanoma starting in the stomach, intestines, salivary glands, mouth, esophagus, liver, pancreas, gallbladder, or rectum. Melanoma is a disease in which malignant (cancer) cells form in the melanocytes. Melanocytes are commonly found in the skin and are th... | Primary gastrointestinal melanoma |
What are the symptoms of Primary gastrointestinal melanoma ? | What are the symptoms of primary melanoma of the small intestine? Symptoms of primary melanoma of the small intestine can vary from person to person. Symptoms tend to be non-specific including nausea, vomiting, stomachache, fatigue, hemorrhage (broken blood vessels), and anemia (low red blood cell count). | Primary gastrointestinal melanoma |
What causes Primary gastrointestinal melanoma ? | What causes primary melanoma of the small intestine? The cause of primary melanoma of the small intestine is currently unknown. Theories include that the cancer originated from a undetectable primary tumor that spontaneously (naturally) regressed on its own; that the cancer originated from a primary tumor that is so sm... | Primary gastrointestinal melanoma |
How to diagnose Primary gastrointestinal melanoma ? | How might primary melanoma of the small intestine be diagnosed? A variety of tests may be involved in the initial diagnosis of the tumor, including contrast radiography, endoscopy, and CT scan. The tumor is confirmed by surgical resection. Careful study of tissue samples from the tumor under a microscope will show the ... | Primary gastrointestinal melanoma |
What are the treatments for Primary gastrointestinal melanoma ? | How might primary melanoma of the small intestine be treated? Treatment of primary melanoma of the small intestine often involves the surgical resection of the tumor. We encourage you to speak with your healthcare provider to learn more about your surgical and other treatment options. | Primary gastrointestinal melanoma |
What are the symptoms of Nelson syndrome ? | What are the signs and symptoms of Nelson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nelson 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... | Nelson syndrome |
What is (are) Mitochondrial complex II deficiency ? | Complex II deficiency is a mitochondrial disease. Mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. In mitochondrial diseases, the mitochondria don't work correctly resulting in less energy in the cell, cell injury and cell death. The signs and symptoms of mi... | Mitochondrial complex II deficiency |
What are the symptoms of Mitochondrial complex II deficiency ? | What are the signs and symptoms of Mitochondrial complex II deficiency? The signs and symptoms of mitochondrial complex II deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood. Many factors affect symptom and symptom severity, including what gene mutation... | Mitochondrial complex II deficiency |
Is Mitochondrial complex II deficiency inherited ? | What causes mitochondrial complex II deficiency? Many genes must work together to ensure that the enzyme, complex II (succinate dehydrogenase), can perform its job normally in the body. Changes in the SDHA, SDHB, SDHC, SDHD, SDHAF1, and SDHAF2 genes can all potentially cause complex II deficiency. Complex II deficiency... | Mitochondrial complex II deficiency |
What are the treatments for Mitochondrial complex II deficiency ? | How might mitochondrial complex II deficiency be treated? Treatment options for complex II deficiency may be similar to those for other mitochondrial disorders in general.[8677] The United Mitochondrial Disease Foundation (UMDF) provides detailed information on treatment through their Web site at: http://www.umdf.org/s... | Mitochondrial complex II deficiency |
What are the symptoms of Glycogen storage disease type 12 ? | What are the signs and symptoms of Glycogen storage disease type 12? The Human Phenotype Ontology provides the following list of signs and symptoms for Glycogen storage disease type 12. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... | Glycogen storage disease type 12 |
What are the symptoms of Jervell and Lange-Nielsen syndrome 2 ? | What are the signs and symptoms of Jervell and Lange-Nielsen syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Jervell and Lange-Nielsen syndrome 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | Jervell and Lange-Nielsen syndrome 2 |
What are the symptoms of Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech ? | What are the signs and symptoms of Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech. If the information is available, the table below includes how often ... | Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech |
What are the symptoms of Diffuse cutaneous mastocytosis ? | What are the signs and symptoms of Diffuse cutaneous mastocytosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Diffuse cutaneous mastocytosis. 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... | Diffuse cutaneous mastocytosis |
What are the symptoms of Mesomelic dysplasia Savarirayan type ? | What are the signs and symptoms of Mesomelic dysplasia Savarirayan type? The Human Phenotype Ontology provides the following list of signs and symptoms for Mesomelic dysplasia Savarirayan type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | Mesomelic dysplasia Savarirayan type |
What are the symptoms of Autosomal dominant optic atrophy and cataract ? | What are the signs and symptoms of Autosomal dominant optic atrophy and cataract? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant optic atrophy and cataract. If the information is available, the table below includes how often the symptom is seen in people with this ... | Autosomal dominant optic atrophy and cataract |
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... | Marden Walker like syndrome |
What are the symptoms of Familial tumoral calcinosis ? | What are the signs and symptoms of Familial tumoral calcinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial tumoral calcinosis. 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... | Familial tumoral calcinosis |
What are the symptoms of Ichthyosis prematurity syndrome ? | What are the signs and symptoms of Ichthyosis prematurity syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis prematurity 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 M... | Ichthyosis prematurity syndrome |
What is (are) Wilson disease ? | Wilson disease is a rare inherited disorder that is characterized by the accumulation of copper in the body. Because high levels of copper are toxic to tissues and organs, this buildup can lead to damage of the liver, brain and eyes. Signs and symptoms of Wilson disease include chronic liver disease, central nervous sy... | Wilson disease |
What are the symptoms of Wilson disease ? | What are the signs and symptoms of Wilson disease? Wilson disease can affect many different systems of the body. Affected people often develop signs and symptoms of chronic liver disease in their teenaged years or early twenties. These features may include jaundice; abnormal fluid retention which can lead to swelling o... | Wilson disease |
What causes Wilson disease ? | What causes Wilson disease? Wilson disease is caused by changes (mutations) in the ATP7B gene. This gene encodes a protein that plays an important role in the transport of copper from the liver to the rest of the body. It also helps remove excess copper from the body. Mutations in the ATP7B gene prevent this protein fr... | Wilson disease |
Is Wilson disease inherited ? | Is Wilson disease inherited? Wilson disease 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. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers.... | Wilson disease |
What are the treatments for Wilson disease ? | How might Wilson disease be treated? There is currently no cure for Wilson disease; however, therapies exist that aim to reduce or control the amount of copper that accumulates in the body. Affected people require lifelong treatment, which may include certain medications and/or dietary modifications. If treatment is no... | Wilson disease |
What is (are) Crystal arthropathies ? | Crystal arthropathies are a diverse group of bone diseases associated with the deposition of minerals within joints and the soft tissues around the joints. The group includes gout, basic calcium phosphate and calcium pyrophosphate dihydrate deposition diseases, and, in very rare cases, calcium oxalate crystal arthropat... | Crystal arthropathies |
What is (are) Lung adenocarcinoma ? | Lung adenocarcinoma is a cancer that occurs due to abnormal and uncontrolled cell growth in the lungs. It is a subtype of non-small cell lung cancer that is often diagnosed in an outer area of the lung. Early lung cancers may not be associated with any signs and symptoms. As the condition progresses, affected people ca... | Lung adenocarcinoma |
What are the symptoms of Lung adenocarcinoma ? | What are the signs and symptoms of Lung adenocarcinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Lung adenocarcinoma. 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... | Lung adenocarcinoma |
What is (are) Galactosialidosis ? | Galactosialidosis is an autosomal recessive lysosomal storage disorder caused by mutations in the CTSA gene. It is characterized by coarse facial features, macular cherry-red spots, angiokeratoma (dark red spots on the skin), vertebral deformities, epilepsy, action myoclonus, and ataxia. There are three different types... | Galactosialidosis |
What are the symptoms of Galactosialidosis ? | What are the signs and symptoms of Galactosialidosis? The early infantile form of galactosialidosis is associated with hydrops fetalis, inguinal hernia, and hepatosplenomegaly. Additional features include abnormal bone development (dysostosis multiplex) and distinctive facial features that are often described as 'coars... | Galactosialidosis |
What causes Galactosialidosis ? | What causes galactosialidosis? Galactosialidosis is caused by mutations in the CTSA gene. The CTSA gene provides instructions for making a protein called cathepsin A, which is active in cellular compartments called lysosomes. These compartments contain enzymes that digest and recycle materials when they are no longer n... | Galactosialidosis |
Is Galactosialidosis inherited ? | How is galactosialidosis inherited? Galactosialidosis is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symp... | Galactosialidosis |
What are the treatments for Galactosialidosis ? | How might galactosialidosis be treated? There is no cure for galactosialidosis. Treatment is symptomatic and supportive; for example, taking medication to control seizures. Individuals with galactosialidosis are encouraged to routinely see their genetic counselors, neurological, ophthalmological, and other specialists ... | Galactosialidosis |
What is (are) Febrile infection-related epilepsy syndrome ? | Febrile infection-related epilepsy syndrome (FIRES) is a severe brain disorder that develops in children after a fever. This condition results in sudden seizures and leads to declines in memory and intellectual ability. FIRES can also cause psychiatric disorders or problems with motor skills. The cause of FIRES is unkn... | Febrile infection-related epilepsy syndrome |
What are the symptoms of Febrile infection-related epilepsy syndrome ? | What are the signs and symptoms of Febrile infection-related epilepsy syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Febrile infection-related epilepsy syndrome. If the information is available, the table below includes how often the symptom is seen in people with this cond... | Febrile infection-related epilepsy syndrome |
What are the symptoms of Osteodysplasty precocious of Danks Mayne and Kozlowski ? | What are the signs and symptoms of Osteodysplasty precocious of Danks Mayne and Kozlowski? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteodysplasty precocious of Danks Mayne and Kozlowski. If the information is available, the table below includes how often the symptom is seen in... | Osteodysplasty precocious of Danks Mayne and Kozlowski |
What are the symptoms of Familial hypocalciuric hypercalcemia type 2 ? | What are the signs and symptoms of Familial hypocalciuric hypercalcemia type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hypocalciuric hypercalcemia type 2. If the information is available, the table below includes how often the symptom is seen in people with this cond... | Familial hypocalciuric hypercalcemia type 2 |
What are the symptoms of D-glycericacidemia ? | What are the signs and symptoms of D-glycericacidemia? The Human Phenotype Ontology provides the following list of signs and symptoms for D-glycericacidemia. 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 Diction... | D-glycericacidemia |
What are the symptoms of Transcobalamin 1 deficiency ? | What are the signs and symptoms of Transcobalamin 1 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Transcobalamin 1 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 MedlinePl... | Transcobalamin 1 deficiency |
What is (are) Ocular cicatricial pemphigoid ? | Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders) that affects the eyes. In the early stages, people with OCP generally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drain... | Ocular cicatricial pemphigoid |
What are the symptoms of Ocular cicatricial pemphigoid ? | What are the signs and symptoms of Ocular cicatricial pemphigoid? The Human Phenotype Ontology provides the following list of signs and symptoms for Ocular cicatricial pemphigoid. 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... | Ocular cicatricial pemphigoid |
What are the symptoms of Lambdoid synostosis ? | What are the signs and symptoms of Lambdoid synostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Lambdoid synostosis. 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... | Lambdoid synostosis |
What are the symptoms of Pilodental dysplasia with refractive errors ? | What are the signs and symptoms of Pilodental dysplasia with refractive errors? The Human Phenotype Ontology provides the following list of signs and symptoms for Pilodental dysplasia with refractive errors. If the information is available, the table below includes how often the symptom is seen in people with this cond... | Pilodental dysplasia with refractive errors |
What are the symptoms of Holocarboxylase synthetase deficiency ? | What are the signs and symptoms of Holocarboxylase synthetase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Holocarboxylase synthetase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | Holocarboxylase synthetase deficiency |
What is (are) Michelin tire baby syndrome ? | Michelin tire baby syndrome (MTBS) is a rare skin condition that consists of many, symmetrical skin folds found on the arms and legs of an affected individual at birth (congenital). The skin folds do not cause any problems or impairments and usually disappear naturally as the child grows. MTBS may be associated with ... | Michelin tire baby syndrome |
What are the symptoms of Michelin tire baby syndrome ? | What are the signs and symptoms of Michelin tire baby syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Michelin tire baby 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... | Michelin tire baby syndrome |
What are the symptoms of Bartter syndrome type 3 ? | What are the signs and symptoms of Bartter syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Bartter syndrome type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medic... | Bartter syndrome type 3 |
What is (are) Russell-Silver syndrome ? | Russell-Silver syndrome (RSS) is a congenital disorder that causes poor growth; low birth weight; short height; and size differences (asymmetry) of parts of the body. Other signs and symptoms may include poor appetite; low blood sugar (hypoglycemia) due to feeding difficulties; a small, triangular face with distinctive... | Russell-Silver syndrome |
What are the symptoms of Russell-Silver syndrome ? | What are the signs and symptoms of Russell-Silver syndrome? Signs and symptoms of Russell-Silver syndrome (RSS) can vary and may include: intrauterine growth restriction low birth weight poor growth short stature curving of the pinky finger (clinodactyly) characteristic facial features (wide forehead; small, triangular... | Russell-Silver syndrome |
What causes Russell-Silver syndrome ? | What causes Russell-Silver syndrome? Russell-Silver syndrome (RSS) is a genetic disorder that usually results from the abnormal regulation of certain genes that control growth. Two genetic causes have been found to result in the majority of cases: abnormalities at an imprinted region on chromosome 11p15 - for some gene... | Russell-Silver syndrome |
Is Russell-Silver syndrome inherited ? | Is Russell-Silver syndrome inherited? Most cases of Russell-Silver syndrome (RSS) are sporadic (not inherited), which means they occur in people with no family history of RSS. Less commonly, Russell-Silver syndrome is inherited. In some families, it appears to be inherited in an autosomal dominant manner. This means th... | Russell-Silver syndrome |
What is (are) Central core disease ? | Central core disease (CCD) is an inherited condition that involves muscle weakness, skeletal abnormalities, and an increased chance of having a severe reaction to some anesthesia medications. Muscle weakness ranges from mild to severe and typically affects muscles in the trunk and upper legs, though muscles in the nec... | Central core disease |
What are the symptoms of Central core disease ? | What are the signs and symptoms of Central core disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Central core 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 Dic... | Central core disease |
How to diagnose Central core disease ? | How is central core disease diagnosed? Because the symptoms of central core disease can be quite variable, a physical examination alone is often not enough to establish a diagnosis. A combination of the following examinations and testings can diagnosis this condition: a physical examination that confirms muscle weakne... | Central core disease |
What are the treatments for Central core disease ? | What treatments might be available for central core disease? Treatments for central core disease (CCD) depend on the symptoms experienced by each affected individual. When someone is first diagnosed with this condition, a physical examination is done to assess the extent and severity of muscle weakness, and physical t... | Central core disease |
What is (are) Reactive arthritis ? | Reactive arthritis is a type of infectious arthritis that occurs as a reaction to an infection elsewhere in the body. This process may occur weeks or even months after the infection has resolved. In addition to joint inflammation, reactive arthritis is associated with two other symptoms: redness and inflammation of the... | Reactive arthritis |
What are the symptoms of Reactive arthritis ? | What are the signs and symptoms of Reactive arthritis? The Human Phenotype Ontology provides the following list of signs and symptoms for Reactive arthritis. 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 Diction... | Reactive arthritis |
What is (are) Hereditary leiomyomatosis and renal cell cancer ? | Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a condition that causes benign tumors of smooth muscle tissue in the skin (cutaneous leiomyomas) and in the uterus in females (uterine leiomyomas, or fibroids). The condition also increases the risk of kidney cancer. Signs and symptoms usually begin in adulthoo... | Hereditary leiomyomatosis and renal cell cancer |
What are the symptoms of Hereditary leiomyomatosis and renal cell cancer ? | What are the signs and symptoms of Hereditary leiomyomatosis and renal cell cancer? Signs and symptoms of hereditary leiomyomatosis and renal cell cancer (HLRCC) typically begin in adulthood at an average age of 25. The skin growths (cutaneous leiomyomata) appear as skin-colored or light brown bumps on the torso and ex... | Hereditary leiomyomatosis and renal cell cancer |
What causes Hereditary leiomyomatosis and renal cell cancer ? | What causes hereditary leiomyomatosis and renal cell cancer? Hereditary leiomyomatosis and renal cell cancer (HLRCC) is caused by changes (mutations) in the FH gene. This gene gives the body instructions for making an enzyme called fumarase which is needed for a series of reactions that lets cells use oxygen and energy... | Hereditary leiomyomatosis and renal cell cancer |
Is Hereditary leiomyomatosis and renal cell cancer inherited ? | How is hereditary leiomyomatosis and renal cell cancer inherited? Hereditary leiomyomatosis and renal cell cancer (HLRCC) is inherited in an autosomal dominant pattern, which means that having one mutated copy of the gene in each cell is enough to cause symptoms of the condition. In some cases, an affected person inher... | Hereditary leiomyomatosis and renal cell cancer |
What are the treatments for Hereditary leiomyomatosis and renal cell cancer ? | How might hereditary leiomyomatosis and renal cell cancer be treated? Skin growths (cutaneous leiomyomas) associated with hereditary leiomyomatosis and renal cell cancer (HLRCC) should be examined by a dermatologist. Treatment of these may include surgery to remove a painful growth; cryoablation and/or lasers; and/or m... | Hereditary leiomyomatosis and renal cell cancer |
What is (are) Beare-Stevenson cutis gyrata syndrome ? | Beare-Stevenson cutis gyrata syndrome is a genetic condition characterized by skin abnormalities (cutis gyrata, which causes a furrowed and wrinkled appearance, and acanthosis nigricans) and the premature fusion of certain bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normall... | Beare-Stevenson cutis gyrata syndrome |
What are the symptoms of Beare-Stevenson cutis gyrata syndrome ? | What are the signs and symptoms of Beare-Stevenson cutis gyrata syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Beare-Stevenson cutis gyrata syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | Beare-Stevenson cutis gyrata syndrome |
What are the symptoms of Familial congenital fourth cranial nerve palsy ? | What are the signs and symptoms of Familial congenital fourth cranial nerve palsy? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial congenital fourth cranial nerve palsy. If the information is available, the table below includes how often the symptom is seen in people with thi... | Familial congenital fourth cranial nerve palsy |
What are the symptoms of Gracile bone dysplasia ? | What are the signs and symptoms of Gracile bone dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Gracile bone dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical... | Gracile bone dysplasia |
What is (are) Townes-Brocks syndrome ? | Townes-Brocks syndrome is a genetic condition characterized by an obstruction of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations that most often affect the thumbs. Most affected individuals have at least two of these three main features. The condition is caused by mutations in the SA... | Townes-Brocks syndrome |
What are the symptoms of Townes-Brocks syndrome ? | What are the signs and symptoms of Townes-Brocks syndrome? Townes-Brocks syndrome is characterized by an obstruction of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations that most often affect the thumbs. Most people with this condition have at least two of these three major features. ... | Townes-Brocks syndrome |
What causes Townes-Brocks syndrome ? | What causes Townes-Brocks syndrome? Townes-Brocks syndrome is caused by mutations in the SALL1 gene. This gene is part of a group of genes called the SALL family. These genes provide instructions for making proteins that are involved in the formation of tissues and organs before birth. SALL proteins act as transcriptio... | Townes-Brocks syndrome |
Is Townes-Brocks syndrome inherited ? | Is Townes-Brocks syndrome genetic? Yes. Townes-Brocks syndrome is inherited in an autosomal dominant fashion, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. In about 50% of cases, an affected person inherits the mutation from an affected parent. The other 50% have the co... | Townes-Brocks syndrome |
How to diagnose Townes-Brocks syndrome ? | How is Townes-Brocks syndrome diagnosed? Townes-Brocks syndrome is diagnosed clinically based on the presence of the following: Imperforate anus Abnormally shaped ears Typical thumb malformations (preaxial polydactyly, triphalangeal thumbs which have three bones in them, much like the fingers, instead of the normal two... | Townes-Brocks syndrome |
What are the treatments for Townes-Brocks syndrome ? | Is there treatment for Townes-Brocks syndrome? Treatment is directed towards the specific symptoms, including immediate surgical intervention for imperforate anus; surgery for severe malformations of the hands; routine management of congenital heart defects; hemodialysis and possibly kidney transplantation for end-stag... | Townes-Brocks syndrome |
What is (are) Congenital sucrase-isomaltase deficiency ? | Congenital sucrase-isomaltase deficiency (CSID) is a genetic condition that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains). CSID usually becomes apparent... | Congenital sucrase-isomaltase deficiency |
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