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What is (are) Hirschsprung's disease ? | Hirschsprung disease is a disease of the large intestine or colon. People with this disease do not have the nerve cells in the intestine required to expel stools from the body normally. Symptoms of Hirschsprung disease usually show up in very young children, but sometimes not until adolescence or adulthood. The symptom... | Hirschsprung's disease |
What are the symptoms of Hirschsprung's disease ? | What are the signs and symptoms of Hirschsprung's disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Hirschsprung's 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... | Hirschsprung's disease |
What causes Hirschsprung's disease ? | What causes Hirschsprung disease? There are a number of different causes of Hirschsprung disease (HSCR). For example, HSCR may occur as: A part of a syndrome In association with a chromosome anomaly (such as trisomy 21 or Down syndrome) Along with other birth defects but not as a part of a known syndrome As an isolate... | Hirschsprung's disease |
Is Hirschsprung's disease inherited ? | Is Hirschsprung's disease inherited? Hirschsprung's disease (HSCR) usually occurs occurs by itself without other symptoms and is called isolated HSCR. Isolated HSCR has multifactorial inheritance, which means that multiple genes interact with environmental factors to cause the condition. When someone has a child with i... | Hirschsprung's disease |
What are the symptoms of Paragangliomas 1 ? | What are the signs and symptoms of Paragangliomas 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Paragangliomas 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 Medical Dictionary ... | Paragangliomas 1 |
What are the symptoms of Hypothalamic hamartomas ? | What are the signs and symptoms of Hypothalamic hamartomas? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypothalamic hamartomas. 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... | Hypothalamic hamartomas |
What is (are) Miller-Dieker syndrome ? | Miller-Dieker syndrome is a genetic condition characterized by lissencephaly, typical facial features, and severe neurologic abnormalities. Symptoms may include severe intellectual disability, developmental delay, seizures, muscle stiffness, weak muscle tone and feeding difficulties. Miller-Dieker syndrome is caused by... | Miller-Dieker syndrome |
What are the symptoms of Miller-Dieker syndrome ? | What are the signs and symptoms of Miller-Dieker syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Miller-Dieker 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... | Miller-Dieker syndrome |
What are the symptoms of Feingold syndrome ? | What are the signs and symptoms of Feingold syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Feingold 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 Dictionar... | Feingold syndrome |
What is (are) Kimura disease ? | Kimura disease is a rare, benign, chronic disorder that causes inflammation of tissue (nodules) under the skin of the head or neck. These nodules tend to recur despite treatment. The cause of this condition is unknown, but may be due to an immune response. | Kimura disease |
What are the treatments for Kimura disease ? | How might Kimura disease be treated? For individuals with symptoms caused by Kimura disease, surgery to remove the nodules is the treatment of choice; however, the nodules often reappear after surgery. Steroids (such as prednisone), taken by mouth or via an injection in the skin, can shrink the nodules but rarely resul... | Kimura disease |
What is (are) Carnitine-acylcarnitine translocase deficiency ? | Carnitine-acylcarnitine translocase deficiency is a condition that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce e... | Carnitine-acylcarnitine translocase deficiency |
What are the symptoms of Carnitine-acylcarnitine translocase deficiency ? | What are the signs and symptoms of Carnitine-acylcarnitine translocase deficiency? The signs of carnitine-acylcarnitine translocase deficiency usually begin within the first few hours after birth. Seizures, an irregular heartbeat (arrhythmia), and breathing problems are often the first signs of this disorder. This diso... | Carnitine-acylcarnitine translocase deficiency |
What causes Carnitine-acylcarnitine translocase deficiency ? | What causes carnitine-acylcarnitine translocase deficiency? Carnitine-acylcarnitine translocase deficiency occurs when an enzyme, called "carnitine-acylcarnitine translocase" (CAT), is either missing or not working properly. This enzyme's job is to help change certain fats in the food we eat into energy. It also helps ... | Carnitine-acylcarnitine translocase deficiency |
Is Carnitine-acylcarnitine translocase deficiency inherited ? | How is carnitine-acylcarnitine inherited? Carnitine-acylcarnitine translocase deficiency 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 t... | Carnitine-acylcarnitine translocase deficiency |
How to diagnose Carnitine-acylcarnitine translocase deficiency ? | Is there genetic testing available for carnitine-acylcarnitine translocase deficiency? Genetic testing for carnitine-acylcarnitine translocase deficiency can be done on a blood sample. Genetic testing, also called DNA testing, looks for changes in the pair of genes that cause carnitine-acylcarnitine translocase deficie... | Carnitine-acylcarnitine translocase deficiency |
What are the treatments for Carnitine-acylcarnitine translocase deficiency ? | How might carnitine-acylcarnitine translocase deficiency be treated? Although there is no standard treatment plan for carnitine-acylcarnitine translocase deficiency, there are treatments that have been found to be helpful in the management of this condition. Certain treatments may be helpful for some children but not o... | Carnitine-acylcarnitine translocase deficiency |
What is (are) Autoimmune atrophic gastritis ? | Autoimmune atrophic gastritis is an autoimmune disorder in which the immune system mistakenly attacks the healthy cells of the stomach lining. Overtime, this can wear away the stomach's protective barrier and interfere with the absorption of several key vitamins (i.e. vitamin B12, iron, folate). In some cases, autoimmu... | Autoimmune atrophic gastritis |
What are the symptoms of Autoimmune atrophic gastritis ? | What are the signs and symptoms of autoimmune atrophic gastritis? In some cases, autoimmune atrophic gastritis does not cause any obvious signs and symptoms. However, some people may experience nausea, vomiting, a feeling of fullness in the upper abdomen after eating, or abdominal pain. It is often associated with impa... | Autoimmune atrophic gastritis |
What causes Autoimmune atrophic gastritis ? | What causes autoimmune atrophic gastritis? Autoimmune atrophic gastritis is considered an autoimmune disorder. In people who are affected by this condition, the immune system mistakenly attacks the healthy cells of the stomach lining. Overtime, this can wear away the stomach's protective barrier and interfere with the ... | Autoimmune atrophic gastritis |
Is Autoimmune atrophic gastritis inherited ? | Is autoimmune atrophic gastritis inherited? In some cases, more than one family member can be affected by autoimmune atrophic gastritis. Although the underlying genetic cause has not been identified, studies suggest that the condition may be inherited in an autosomal dominant manner in these families. In autosomal domi... | Autoimmune atrophic gastritis |
How to diagnose Autoimmune atrophic gastritis ? | How is autoimmune atrophic gastritis diagnosed? A diagnosis of autoimmune atrophic gastritis is generally not suspected until characteristic signs and symptoms are present. Additional testing can then be ordered to confirm the diagnosis. This generally includes: A biopsy of the affected tissue obtained through endoscop... | Autoimmune atrophic gastritis |
What are the treatments for Autoimmune atrophic gastritis ? | How might autoimmune atrophic gastritis be treated? The treatment of autoimmune atrophic gastritis is generally focused on preventing and/or alleviating signs and symptoms of the condition. For example, management is focused on preventing vitamin B12, folate and iron deficiencies in the early stages of the condition. W... | Autoimmune atrophic gastritis |
What is (are) Dentatorubral-pallidoluysian atrophy ? | Dentatorubral-pallidoluysian atrophy (DRPLA) is a progressive brain disorder that causes involuntary movements; mental and emotional problems; and a decline in thinking ability. The average age of onset of DRPLA is 30 years, but the condition can appear anytime from infancy to mid-adulthood. Specific signs and symptoms... | Dentatorubral-pallidoluysian atrophy |
What are the symptoms of Dentatorubral-pallidoluysian atrophy ? | What are the signs and symptoms of Dentatorubral-pallidoluysian atrophy? The signs and symptoms of DRPLA differ somewhat between affected children and adults. When DRPLA appears before age 20, it most often involves episodes of involuntary muscle jerking or twitching (myoclonus); seizures; behavioral changes; intellect... | Dentatorubral-pallidoluysian atrophy |
What causes Dentatorubral-pallidoluysian atrophy ? | What causes dentatorubral-pallidoluysian atrophy (DRPLA)? DRPLA is caused by a mutation in the ATN1 gene. This gene provides instructions for making a protein called atrophin 1. Although the function of atrophin 1 is unclear, it likely plays an important role in nerve cells (neurons) in many areas of the brain. The ATN... | Dentatorubral-pallidoluysian atrophy |
Is Dentatorubral-pallidoluysian atrophy inherited ? | How is dentatorubral-pallidoluysian atrophy (DRPLA) inherited? | Dentatorubral-pallidoluysian atrophy |
What are the treatments for Dentatorubral-pallidoluysian atrophy ? | How might dentatorubral-pallidoluysian atrophy (DRPLA) be treated? There is no cure for DRPLA; treatment is generally symptomatic and supportive. Management of signs and symptoms may include: Treatment of seizures with anti-epileptic drugs Treatment of psychiatric problems with appropriate psychotropic medications Ada... | Dentatorubral-pallidoluysian atrophy |
What is (are) Cleidocranial dysplasia ? | Cleidocranial dysplasia is a condition that primarily affects the development of the bones and teeth. Characteristic features of this condition include underdeveloped or absent collarbones (clavicles) and delayed closing of the spaces between the bones of the skull (fontanels). Individuals with cleidocranial dysplasia ... | Cleidocranial dysplasia |
What are the symptoms of Cleidocranial dysplasia ? | What are the signs and symptoms of Cleidocranial dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleidocranial 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 Medic... | Cleidocranial dysplasia |
What causes Cleidocranial dysplasia ? | What causes cleidocranial dysplasia? Cleidocranial dysplasia is caused by mutations in the RUNX2 (CBFA1) gene. The RUNX2 gene provides instructions for making a protein that is involved in bone and cartilage development and maintenance. Researchers believe that the RUNX2 protein acts as a "master switch," regulating a ... | Cleidocranial dysplasia |
Is Cleidocranial dysplasia inherited ? | How is cleidocranial dysplasia inherited? Cleidocranial dysplasia is inherited in an autosomal dominant manner, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from de novo... | Cleidocranial dysplasia |
What are the treatments for Cleidocranial dysplasia ? | What treatment is available for cleidocranial dysplasia? Because there is no specific treatment for cleidocranial dysplasia, treatment is based on an individual's symptoms. Affected individuals typically require dental care due to various teeth abnormalities. People with cleidocranial dysplasia may receive supplements ... | Cleidocranial dysplasia |
What is (are) La Crosse encephalitis ? | La Crosse (LAC) encephalitis is a mosquito-borne virus that was first described in La Crosse, Wisconsin in 1963. Since then, it has been reported in several Midwestern and Mid-Atlantic states. The LAC virus is one of many mosquito-transmitted viruses that can cause an inflammation of the brain (encephalitis). About 80-... | La Crosse encephalitis |
What are the symptoms of La Crosse encephalitis ? | What are the symptoms of La Crosse (LAC) encephalitis? Most people infected with LAC encephalitis do not have symptoms. Those that do become ill may initially have fever, headache, vomiting and lethargy (tiredness). Severe cases may develop encephalitis, an inflammation of the brain, which is often accompanied by seizu... | La Crosse encephalitis |
What are the treatments for La Crosse encephalitis ? | How might La Crosse (LAC) encephalitis be treated? There is no specific treatment for LAC encephalitis. Severe cases are treated with supportive therapy which may include hospitalization, respiratory support, IV fluids and prevention of other infections.[9633] | La Crosse encephalitis |
What is (are) Muir-Torre syndrome ? | Muir-Torre syndrome (MTS) is a form of Lynch syndrome and is characterized by sebaceous (oil gland) skin tumors in association with internal cancers. The most common internal site involved is the gastrointestinal tract (with almost half of affected people having colorectal cancer), followed by the genitourinary tract. ... | Muir-Torre syndrome |
What are the symptoms of Muir-Torre syndrome ? | What are the signs and symptoms of Muir-Torre syndrome? Sebaceous adenoma is the most characteristic finding in people with Muir-Torre syndrome (MTS). Other types of skin tumors in affected people include sebaceous epitheliomas, sebaceous carcinomas (which commonly occur on the eyelids) and keratoacanthomas. Sebaceous ... | Muir-Torre syndrome |
What causes Muir-Torre syndrome ? | What causes Muir-Torre syndrome? Muir-Torre syndrome is a subtype of Lynch syndrome and may be caused by changes (mutations) in either the MLH1, MSH2, or MSH6 gene. These genes give the body instructions to make proteins needed for repairing DNA. The proteins help fix mistakes that are made when DNA is copied before ce... | Muir-Torre syndrome |
Is Muir-Torre syndrome inherited ? | How is Muir-Torre syndrome inherited? Muir-Torre-syndrome (MTS) is a variant of Lynch syndrome and is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough for a person to develop the condition. When a person with an autosomal do... | Muir-Torre syndrome |
How to diagnose Muir-Torre syndrome ? | How is Muir-Torre syndrome diagnosed? A person is suspected to have Muir-Torre syndrome (MTS)if he/she has one or more of the following: History of one or more sebaceous tumors Age younger than 60 years at first presentation of sebaceous tumors Personal history of Lynch-related cancers Family history of Lynch-related c... | Muir-Torre syndrome |
What are the symptoms of Autosomal dominant caf au lait spots ? | What are the signs and symptoms of Autosomal dominant caf au lait spots ? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant caf au lait spots . If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | Autosomal dominant caf au lait spots |
What are the symptoms of Renal dysplasia megalocystis sirenomelia ? | What are the signs and symptoms of Renal dysplasia megalocystis sirenomelia? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal dysplasia megalocystis sirenomelia. If the information is available, the table below includes how often the symptom is seen in people with this condition.... | Renal dysplasia megalocystis sirenomelia |
What is (are) Schwannomatosis ? | Schwannomatosis is a rare form of neurofibromatosis that is primarily characterized by multiple schwannomas (benign tumors of the nervous system) in the absence of bilateral (affecting both sides) vestibular schwannomas. Signs and symptoms of the condition vary based on the size, location and number of schwannomas but ... | Schwannomatosis |
What are the symptoms of Schwannomatosis ? | What are the signs and symptoms of Schwannomatosis? Signs and symptoms of the schwannomatosis often develop during adulthood between ages 25 and 30. Affected people generally have multiple schwannomas, which are benign tumors of the nervous system. In schwannomatosis, these tumors can grow along any nerve in the body, ... | Schwannomatosis |
What causes Schwannomatosis ? | What causes schwannomatosis? Some cases of schwannomatosis are caused by changes (mutations) in the SMARCB1 or LZTR1 genes. SMARCB1 and LZTR1 are tumor suppressor genes, which means that they encode a protein that stops cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in these genes resu... | Schwannomatosis |
Is Schwannomatosis inherited ? | Is schwannomatosis inherited? Approximately 15% percent of all schwannomatosis cases are thought to be inherited. In these cases, the condition is thought to be inherited in an autosomal dominant manner with highly variable expressivity and reduced penetrance. This means that a person only needs a change (mutation) in ... | Schwannomatosis |
How to diagnose Schwannomatosis ? | How is schwannomatosis diagnosed? A diagnosis of schwannomatosis is often suspected based on the presence of characteristic signs and symptoms, especially if there are other family members with the condition. Additional testing can then be ordered to further support the diagnosis and rule out other conditions with simi... | Schwannomatosis |
What are the treatments for Schwannomatosis ? | How might schwannomatosis be treated? Treatment for schwannomatosis is based on the signs and symptoms present in each person. For example, pain is one of the most common symptoms of the condition. Treatment with medications such as gabapentin or pregabalin and the use of short-acting opioids and/or nonsteroidal anti-i... | Schwannomatosis |
What are the symptoms of Spastic ataxia Charlevoix-Saguenay type ? | What are the signs and symptoms of Spastic ataxia Charlevoix-Saguenay type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic ataxia Charlevoix-Saguenay type. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | Spastic ataxia Charlevoix-Saguenay type |
What is (are) Sideroblastic anemia ? | Sideroblastic anemia is a heterogeneous group of blood disorders characterized by an impaired ability of the bone marrow to produce normal red blood cells. The iron inside red blood cells is inadequately used to make hemoglobin, despite adequate or increased amounts of iron. Abnormal red blood cells called sideroblasts... | Sideroblastic anemia |
What are the symptoms of Sideroblastic anemia ? | What are the symptoms of sideroblastic anemia? The symptoms of sideroblastic anemia are the same as for any anemia and iron overload. These may include fatigue, weakness, palpitations, shortness of breath, headaches, irritability, and chest pain. Physical findings may include pallor, tachycardia, hepatosplenomegaly, S3... | Sideroblastic anemia |
What causes Sideroblastic anemia ? | What causes sideroblastic anemia? The exact cause of sideroblastic anemia in many patients remains unknown. Reversible sideroblastic anemia can be caused by alcohol, isoniazid, pyrazinamide, cycloserine (a prescription antibiotic that may cause anemia, peripheral neuritis, or seizures by acting as a pyridoxine antagoni... | Sideroblastic anemia |
How to diagnose Sideroblastic anemia ? | How is sideroblastic anemia diagnosed? The principle feature of sideroblastic anemia is slowly progressive, mild, life-long anemia which often goes unnoticed. Symptoms of iron overload may lead to the discovery of this underlying disorder. The history and clinical findings, together with laboratory findings, usually pe... | Sideroblastic anemia |
What are the treatments for Sideroblastic anemia ? | How might sideroblastic anemia be treated? The treatment of sideroblastic anemia is directed at controlling symptoms of anemia and preventing organ damage from iron overload. Many patients see improvement with increased vitamin B6 intake - either through diet (potatoes, bananas, raisin bran cereal, lentils, liver, turk... | Sideroblastic anemia |
What is (are) Rett syndrome ? | Rett syndrome is a progressive, neuro-developmental condition that primarily affects girls. Affected girls appear to have normal psychomotor development during the first 6 to 18 months of life, followed by a developmental "plateau," and then rapid regression in language and motor skills. Additional signs and symptoms m... | Rett syndrome |
What are the symptoms of Rett syndrome ? | What are the signs and symptoms of Rett syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rett syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to loo... | Rett syndrome |
What causes Rett syndrome ? | What causes Rett syndrome? Rett syndrome is typically caused by changes (mutations) in the MECP2 gene. This gene provides instructions for making a protein (MeCP2) needed for the development of the nervous system and normal brain function. Mutations in the MECP2 gene that cause Rett syndrome can change the MeCP2 protei... | Rett syndrome |
Is Rett syndrome inherited ? | Is Rett syndrome inherited? Although Rett syndrome is a genetic disorder, less than 1 percent of recorded cases are inherited or passed from one generation to the next. Most cases are sporadic, which means the mutation occurs randomly, and are not inherited. A few families have been described with more than one affecte... | Rett syndrome |
What are the symptoms of Kleefstra syndrome ? | What are the signs and symptoms of Kleefstra syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kleefstra 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 Diction... | Kleefstra syndrome |
What are the symptoms of Benign recurrent intrahepatic cholestasis ? | What are the signs and symptoms of Benign recurrent intrahepatic cholestasis? The Human Phenotype Ontology provides the following list of signs and symptoms for Benign recurrent intrahepatic cholestasis. If the information is available, the table below includes how often the symptom is seen in people with this conditio... | Benign recurrent intrahepatic cholestasis |
What is (are) Nance-Horan syndrome ? | Nance-Horan syndrome is a rare genetic disorder that may be evident at birth. It is characterized by teeth abnormalities and cataracts, resulting in poor vision. Additional eye abnormalities are also often present, including a very small cornea and nystagmus. In some cases, the condition may also be associated with phy... | Nance-Horan syndrome |
What are the symptoms of Nance-Horan syndrome ? | What are the signs and symptoms of Nance-Horan syndrome? The main features of Nance-Horan syndrome include congenital cataracts, dental abnormalities, distinctive facial features, and in some cases, intellectual disability. In affected males, the primary physical characteristic is the presence of dense clouding of the ... | Nance-Horan syndrome |
What causes Nance-Horan syndrome ? | What causes Nance-Horan syndrome? Nance-Horan syndrome is caused by a mutation in the NHS gene, which is located on the X chromosome. Some patients have losses (deletions) of part of the chromosome X short arm (p) within the region involving the NHS gene and other genes that are located in this region. These patients m... | Nance-Horan syndrome |
Is Nance-Horan syndrome inherited ? | How is Nance-Horan syndrome inherited? Nance-Horan syndrome is inherited as an X-linked dominant trait. In X-linked dominant inheritance, both males and females can be affected by a condition. However, affected males tend to have more severe features than females. X-linked conditions result from mutations of a gene loc... | Nance-Horan syndrome |
What is (are) Hypoplastic left heart syndrome ? | Hypoplastic left heart syndrome (HLHS) is a problem with the hearts structure that is present at birth (congenital). It occurs when parts of the left side of the heart (mitral valve, left ventricle, aortic valve, and aorta) do not develop completely. The underdeveloped left side of the heart is unable to provide enough... | Hypoplastic left heart syndrome |
What are the symptoms of Hypoplastic left heart syndrome ? | What are the signs and symptoms of Hypoplastic left heart syndrome? Normally, oxygen-poor blood is pumped through the right side of the heart to the lungs, where it gains oxygen and returns to the left side of the heart. The oxygen-rich blood is then pumped from the left side of the heart to the rest of the body. At bi... | Hypoplastic left heart syndrome |
What are the treatments for Hypoplastic left heart syndrome ? | How might hypoplastic left heart syndrome (HLHS) be treated? Once the diagnosis of HLHS is made, the baby will be admitted to the neonatal intensive care unit. A breathing machine (ventilator) may be needed to help the baby breathe. A medicine called prostaglandin E1 is used to keep blood circulating to the body by kee... | Hypoplastic left heart syndrome |
What are the symptoms of Thin basement membrane nephropathy ? | What are the signs and symptoms of Thin basement membrane nephropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Thin basement membrane nephropathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... | Thin basement membrane nephropathy |
What are the symptoms of Multiple endocrine neoplasia type 2B ? | What are the signs and symptoms of Multiple endocrine neoplasia type 2B? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple endocrine neoplasia type 2B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | Multiple endocrine neoplasia type 2B |
What is (are) Chromosome 8q deletion ? | Chromosome 8q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occu... | Chromosome 8q deletion |
What are the symptoms of Multiple epiphyseal dysplasia 4 ? | What are the signs and symptoms of Multiple epiphyseal dysplasia 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple epiphyseal dysplasia 4. 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... | Multiple epiphyseal dysplasia 4 |
What are the symptoms of Flynn Aird syndrome ? | What are the signs and symptoms of Flynn Aird syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Flynn Aird 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 Dicti... | Flynn Aird syndrome |
What are the symptoms of Osteoglophonic dysplasia ? | What are the signs and symptoms of Osteoglophonic dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteoglophonic 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 Med... | Osteoglophonic dysplasia |
What are the symptoms of Cerebellar hypoplasia tapetoretinal degeneration ? | What are the signs and symptoms of Cerebellar hypoplasia tapetoretinal degeneration? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebellar hypoplasia tapetoretinal degeneration. If the information is available, the table below includes how often the symptom is seen in people with... | Cerebellar hypoplasia tapetoretinal degeneration |
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... | Moebius syndrome |
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 ... | Moebius syndrome |
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... | Moebius syndrome |
What are the symptoms of Dengue fever ? | What are the signs and symptoms of Dengue fever? The Human Phenotype Ontology provides the following list of signs and symptoms for Dengue fever. 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 ... | Dengue fever |
What is (are) Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 ? | Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 (BPES II) is a condition that mainly affects the development of the eyelids. People with this condition have a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and an upward fold of the skin of the lower eyelid near the inner cor... | Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 |
What are the symptoms of Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 ? | What are the signs and symptoms of Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2. If the information is available, the table below includes how often ... | Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 |
What is (are) 48,XXYY syndrome ? | 48,XXYY syndrome is a chromosomal condition, characterized by the presence of an extra X and Y chromosome in males, that causes medical and behavioral problems. 48,XXYY can be considered a variant of Klinefelter syndrome. Individuals with 48,XXYY are usually considerably tall with small testes that do not function norm... | 48,XXYY syndrome |
What are the symptoms of 48,XXYY syndrome ? | What are signs and symptoms of 48,XXYY syndrome? 48,XXYY affects various body systems including disruption of male sexual development. Adolescent and adult males with this condition typically have small testes that do not produce enough testosterone, which is the hormone that directs male sexual development. A shortage... | 48,XXYY syndrome |
What causes 48,XXYY syndrome ? | What causes 48,XXYY? 48,XXYY syndrome is a condition related to the X and Y chromosomes (the sex chromosomes). People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteri... | 48,XXYY syndrome |
Is 48,XXYY syndrome inherited ? | Can 48,XXYY syndrome be inherited? | 48,XXYY syndrome |
What is (are) Renal tubular acidosis with deafness ? | Renal tubular acidosis with deafness is characterized by kidney (renal) problems and sensorineural hearing loss. Infants with this condition may have problems with feeding and gaining weight (failure to thrive). Most children and adults with the condition have short stature, and many develop kidney stones. Other less c... | Renal tubular acidosis with deafness |
What are the symptoms of Renal tubular acidosis with deafness ? | What are the signs and symptoms of Renal tubular acidosis with deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal tubular acidosis with deafness. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | Renal tubular acidosis with deafness |
What are the symptoms of Orofaciodigital syndrome 5 ? | What are the signs and symptoms of Orofaciodigital syndrome 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Orofaciodigital syndrome 5. 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... | Orofaciodigital syndrome 5 |
What is (are) Syndromic microphthalmia, type 3 ? | Syndromic microphthalmia, type 3 is a rare condition that affects the eyes and other parts of the body. Babies with this condition are generally born without eyeballs (anophthalmia) or with eyes that are unusually small (microphthalmia). Both of these abnormalities can be associated with severe vision loss. Other signs... | Syndromic microphthalmia, type 3 |
What are the symptoms of Syndromic microphthalmia, type 3 ? | What are the signs and symptoms of Syndromic microphthalmia, type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Syndromic microphthalmia, type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... | Syndromic microphthalmia, type 3 |
What is (are) Glioma ? | Glioma refers to a type of brain tumor that develops from the glial cells, which are specialized cells that surround and support neurons (nerve cells) in the brain. It is generally classified based on which type of glial cell is involved in the tumor: Astocytoma - tumors that develop from star-shaped glial cells called... | Glioma |
What are the symptoms of Phosphoglycerate kinase deficiency ? | What are the signs and symptoms of Phosphoglycerate kinase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Phosphoglycerate kinase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... | Phosphoglycerate kinase deficiency |
What are the symptoms of Glycosylphosphatidylinositol deficiency ? | What are the signs and symptoms of Glycosylphosphatidylinositol deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Glycosylphosphatidylinositol deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | Glycosylphosphatidylinositol deficiency |
What is (are) Hypohidrotic ectodermal dysplasia ? | Hypohidrotic ectodermal dysplasia (HED) is a genetic skin disease. Common symptoms include sparse scalp and body hair, reduced ability to sweat, and missing teeth. HED is caused by mutations in the EDA, EDAR, or EDARADD genes. It may be inherited in an X-linked recessive, autosomal recessive, or autosomal dominant mann... | Hypohidrotic ectodermal dysplasia |
How to diagnose Hypohidrotic ectodermal dysplasia ? | Is genetic testing available for hypohidrotic ectodermal dysplasia? Yes. Genetic testing for hypohidrotic ectodermal dysplasia is available. In most cases, hypohidrotic ectodermal dysplasia can be diagnosed after infancy based upon the physical features in the affected child. Genetic testing may be ordered to confirm t... | Hypohidrotic ectodermal dysplasia |
What are the treatments for Hypohidrotic ectodermal dysplasia ? | How might hypohidrotic ectodermal dysplasia be treated? There is no specific treatment for HED. The condition is managed by treating the various symptoms. For patients with abnormal or no sweat glands, it is recommended that they live in places with air conditioning at home, school and work. In order to maintain normal... | Hypohidrotic ectodermal dysplasia |
What is (are) Gangliocytoma ? | Gangliocytoma is a rare type of central nervous system (CNS) tumor made up of mature neurons. Gangliocytomas may occur in all age groups but most often occur in people between the ages of 10 and 30. The most common site is the temporal lobe of the brain, but they can arise anywhere in the CNS including the cerebellum, ... | Gangliocytoma |
What are the symptoms of Gangliocytoma ? | What are the signs and symptoms of gangliocytomas? Signs and symptoms caused by the presence of a gangliocytoma can vary depending on the tumor's location. Seizures are the most common symptom. Other symptoms may include increased brain pressure, endocrine disorders, and focal symptoms. Gangliocytomas can also be asymp... | Gangliocytoma |
What is (are) Citrullinemia type I ? | Citrullinemia type I is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. This condition, also known as classic citrullinemia, belongs to a class of genetic diseases called urea cycle disorders. In most cases, the condition becomes evident in the first few days of life. Af... | Citrullinemia type I |
What are the symptoms of Citrullinemia type I ? | What are the signs and symptoms of Citrullinemia type I? Citrullinemia type I presents as a clinical spectrum that includes an acute neonatal form, a milder late-onset form, a form without symptoms and/or hyperammonemia, and a form in which women have onset of severe symptoms during pregnancy or post partum. Infants wi... | Citrullinemia type I |
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