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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... | Bartter syndrome |
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... | Bartter syndrome |
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... | Bartter syndrome |
What are the symptoms of FG syndrome 4 ? | What are the signs and symptoms of FG syndrome 4? The Human Phenotype Ontology provides the following list of signs and symptoms for FG syndrome 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 MedlinePlus Medical Dictionary to loo... | FG syndrome 4 |
What is (are) Zika virus infection ? | Zika virus infection is spread to people primarily through the bite of an infected mosquito. Zika virus can also be spread from a pregnant mother to her child and through sexual contact with an affected male partner. Cases of Zika virus transmission via blood transfusions have also been reported. Zika virus outbreaks a... | Zika virus infection |
What are the treatments for Zika virus infection ? | How might a Zika virus infection be treated? There is no vaccine to prevent Zika virus infections, nor is there a specific medicine to treat Zika. Individuals infected with the Zika virus should get plenty of rest, drink fluids, and take medications such as acetaminophen for pain. Aspirin and other nonsteroidal anti-in... | Zika virus infection |
What is (are) Urachal cyst ? | Urachal cyst is a sac-like pocket of tissue that develops in the urachus, a primitive structure that connects the umbilical cord to the bladder in the developing baby. Although it normally disappears prior to birth, part of the urachus may remain in some people. Urachal cysts can develop at any age, but typically affec... | Urachal cyst |
What are the symptoms of Urachal cyst ? | What are the signs and symptoms of a urachal cyst? In most cases, urachal cysts are not associated with any signs or symptoms unless there are complications such as infection. Possible symptoms vary, but may include: Lower abdominal pain Fever Abdominal lump or mass Pain with urination Urinary tract infection Hematuria | Urachal cyst |
What causes Urachal cyst ? | What causes a urachal cyst? A urachal cyst occurs when a pocket of air or fluid develops in the urachus. Before birth, the urachus is a primitive structure that connects the umbilical cord to the bladder in the developing baby. The urachus normally disappears before birth, but part of the urachus may remain in some peo... | Urachal cyst |
How to diagnose Urachal cyst ? | How is a urachal cyst diagnosed? The diagnosis of a urachal cyst may be suspected based on the presence of characteristic signs and symptoms. The following tests may then be ordered to confirm the diagnosis: Ultrasound Magnetic Resonance Imaging (MRI scan) Computed Tomography (CT scan) | Urachal cyst |
What are the treatments for Urachal cyst ? | How might a urachal cyst be treated? In many cases, the diagnosis of a urachal cyst is only made when there are complications such as infection. Although some cases of infected urachal cysts have reportedly resolved without any intervention, surgical treatment is generally recommended which involves draining the cyst. ... | Urachal cyst |
What are the symptoms of Lethal congenital contracture syndrome 1 ? | What are the signs and symptoms of Lethal congenital contracture syndrome 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Lethal congenital contracture syndrome 1. If the information is available, the table below includes how often the symptom is seen in people with this condition.... | Lethal congenital contracture syndrome 1 |
What are the symptoms of Neuropathy, congenital, with arthrogryposis multiplex ? | What are the signs and symptoms of Neuropathy, congenital, with arthrogryposis multiplex? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuropathy, congenital, with arthrogryposis multiplex. If the information is available, the table below includes how often the symptom is seen in p... | Neuropathy, congenital, with arthrogryposis multiplex |
What is (are) Lambert Eaton myasthenic syndrome ? | Lambert Eaton myasthenic syndrome (LEMS) is a disorder of the neuromuscular junction. The neuromuscular junction is the site where nerve cells meet muscle cells and help activate the muscles. This syndrome occurs when antibodies interfere with electrical impulses between the nerve and muscle cells. It may be associated... | Lambert Eaton myasthenic syndrome |
What are the symptoms of Lambert Eaton myasthenic syndrome ? | What are the symptoms of Lambert-Eaton myasthenic syndrome? Signs and symptoms of Lambert-Eaton myasthenic syndrome may include: Weakness or loss of movement that varies in severity: Difficulty climbing stairs Difficulty lifting objects Need to use hands to arise from sitting or lying positions Difficulty talking Diffi... | Lambert Eaton myasthenic syndrome |
What causes Lambert Eaton myasthenic syndrome ? | What causes Lambert Eaton myasthenic syndrome? Lambert Eaton myasthenic syndrome is the result of an autoimmune process which causes a disruption of electrical impulses between nerve cells and muscle fibers. In cases where Lambert Eaton myasthenic syndrome appears in association with cancer, the cause may be that the b... | Lambert Eaton myasthenic syndrome |
What are the treatments for Lambert Eaton myasthenic syndrome ? | How might Lambert-Eaton myasthenic syndrome be treated? Medications and therapies used to treat Lambert-Eaton myasthenic syndrome may include anticholinesterase agents (e.g., Pyridostigmine), guanidine hydrochloride, plasmapheresis (where blood plasma is removed and replaced with fluid, protein, or donated plasma) or I... | Lambert Eaton myasthenic syndrome |
What are the symptoms of High molecular weight kininogen deficiency ? | What are the signs and symptoms of High molecular weight kininogen deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for High molecular weight kininogen deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condit... | High molecular weight kininogen deficiency |
What are the symptoms of Thakker-Donnai syndrome ? | What are the signs and symptoms of Thakker-Donnai syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Thakker-Donnai 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... | Thakker-Donnai syndrome |
What are the symptoms of Nasopharyngeal carcinoma ? | What are the signs and symptoms of Nasopharyngeal carcinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Nasopharyngeal carcinoma. 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... | Nasopharyngeal carcinoma |
What is (are) Nonalcoholic steatohepatitis ? | Nonalcoholic steatohepatitis, or NASH, is a common, often silent liver disease. It resembles alcoholic liver disease, but occurs in people who drink little or no alcohol. The major feature in NASH is fat in the liver, along with inflammation and damage. Most people with NASH feel well and are not aware that they have a... | Nonalcoholic steatohepatitis |
What causes Nonalcoholic steatohepatitis ? | What causes nonalcoholic steatohepatitis? The underlying cause of NASH remains unclear. It most often occurs in persons who are middle-aged and overweight or obese. Many patients with NASH have elevated blood lipids, such as cholesterol and triglycerides, and many have diabetes or prediabetes. However, not every obese ... | Nonalcoholic steatohepatitis |
How to diagnose Nonalcoholic steatohepatitis ? | How is nonalcoholic steatohepatitis diagnosed? NASH is usually first suspected when elevations are noted in liver tests that are included in routine blood test panels. These may include alanine aminotransferase (ALT) or aspartate aminotransferase (AST). When further evaluation shows no apparent reason for liver disease... | Nonalcoholic steatohepatitis |
What are the treatments for Nonalcoholic steatohepatitis ? | How might nonalcoholic steatohepatitis be treated? Currently, there are no specific therapies for NASH. The most important recommendations given to persons with this disease are to: reduce their weight (if obese or overweight) follow a balanced and healthy diet increase physical activity avoid alcohol avoid unnecessary... | Nonalcoholic steatohepatitis |
What are the symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type D ? | What are the signs and symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type D? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type D. If the information is available, the table below includes how ofte... | Autosomal dominant intermediate Charcot-Marie-Tooth disease type D |
What is (are) Hereditary angioedema ? | Hereditary angioedema (HAE) is an immune disorder characterized by recurrent episodes of severe swelling. The most commonly affected areas of the body are the limbs, face, intestinal tract, and airway. HAE is caused by low levels or improper function of a protein called C1 inhibitor which affects the blood vessels. Thi... | Hereditary angioedema |
What are the symptoms of Hereditary angioedema ? | What are the signs and symptoms of Hereditary angioedema? Hereditary angioedema is characterized by recurrent episodes of severe swelling (angioedema). The most commonly involved areas of the body are the limbs, face, intestinal tract, and airway. While minor trauma or stress may trigger an attack, swelling often occur... | Hereditary angioedema |
What are the treatments for Hereditary angioedema ? | How might hereditary angioedema be treated? Medical treatment of hereditary angioedema (HAE) consists of preventing attacks and managing acute attacks once they occur. During attacks, patients may require respiratory support. They also may require large amounts of intravenous fluids to maintain hemodynamic stability. U... | Hereditary angioedema |
What are the symptoms of Microphthalmia mental deficiency ? | What are the signs and symptoms of Microphthalmia mental deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia mental 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... | Microphthalmia mental deficiency |
What are the symptoms of Omodysplasia 2 ? | What are the signs and symptoms of Omodysplasia 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Omodysplasia 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 Dictionary to l... | Omodysplasia 2 |
What are the symptoms of Ehlers-Danlos syndrome, spondylocheirodysplastic type ? | What are the signs and symptoms of Ehlers-Danlos syndrome, spondylocheirodysplastic type ? The Human Phenotype Ontology provides the following list of signs and symptoms for Ehlers-Danlos syndrome, spondylocheirodysplastic type . If the information is available, the table below includes how often the symptom is seen in... | Ehlers-Danlos syndrome, spondylocheirodysplastic type |
What is (are) Episodic ataxia ? | Episodic ataxia refers to a group of related conditions that affect the nervous system and cause problems with movement. It is characterized by episodes of poor coordination and balance (ataxia). During these episodes, many people also experience dizziness (vertigo), nausea and vomiting, migraine headaches, blurred or ... | Episodic ataxia |
What is (are) Partington syndrome ? | Partington syndrome is a rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands. Other signs and symptoms may include dysarthria, behavioral abnormalities, recurrent seizures and/or an unusual gait (style of walking). Partington syndrome usually... | Partington syndrome |
What are the symptoms of Partington syndrome ? | What are the signs and symptoms of Partington syndrome? The signs and symptoms of Partington syndrome vary but may include: Mild to moderate intellectual disability Behavioral issues Dystonia, especially affecting the movement of the hands Dysarthria Abnormal gait (style of walking) Recurrent seizures Partington syndro... | Partington syndrome |
What causes Partington syndrome ? | What causes Partington syndrome? Partington syndrome is caused by changes (mutations) in the ARX gene, which encodes a protein that regulates the activity of other genes. This protein is particularly important in the developing brain where it plays many roles (i.e. assisting with the movement and communication of neuro... | Partington syndrome |
Is Partington syndrome inherited ? | Is Partington syndrome inherited? Partington syndrome is inherited in an X-linked recessive manner. A condition is considered X-linked if the mutated gene that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome). Women have two X chromosomes... | Partington syndrome |
What are the treatments for Partington syndrome ? | How might Partington syndrome be treated? The treatment of Partington syndrome is based on the signs and symptoms present in each person. For example, dystonia of the hands and other parts of the body may be treated with a variety of therapies including medications and/or physical therapy. Speech therapy may be recomme... | Partington syndrome |
What are the symptoms of Insulin-like growth factor I deficiency ? | What are the signs and symptoms of Insulin-like growth factor I deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Insulin-like growth factor I deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | Insulin-like growth factor I deficiency |
What is (are) Leukoencephalopathy with vanishing white matter ? | Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the central nervous system (CNS). This disorder causes deterioration of white matter, which consists of nerve fibers covered by myelin (the substance that protects the nerves). Most affected people begin to have signs and symp... | Leukoencephalopathy with vanishing white matter |
What are the symptoms of Leukoencephalopathy with vanishing white matter ? | What are the signs and symptoms of Leukoencephalopathy with vanishing white matter? The Human Phenotype Ontology provides the following list of signs and symptoms for Leukoencephalopathy with vanishing white matter. If the information is available, the table below includes how often the symptom is seen in people with t... | Leukoencephalopathy with vanishing white matter |
What causes Leukoencephalopathy with vanishing white matter ? | What causes leukoencephalopathy with vanishing white matter? Leukoencephalopathy with vanishing white matter is a genetic condition caused by mutations in any of 5 genes - EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5. These genes give the body instructions to make the five parts (subunits) of a protein called eIF2B. This... | Leukoencephalopathy with vanishing white matter |
Is Leukoencephalopathy with vanishing white matter inherited ? | How is leukoencephalopathy with vanishing white matter inherited? Leukoencephalopathy with vanishing white matter is inherited in an autosomal recessive manner. This means that a person must have a mutation in both copies of the responsible gene to be affected. The parents of an affected person usually each carry one m... | Leukoencephalopathy with vanishing white matter |
What are the treatments for Leukoencephalopathy with vanishing white matter ? | How might leukoencephalopathy with vanishing white matter be treated? Treatment for leukoencephalopathy with vanishing white matter is supportive, aiming to alleviate symptoms. Management may include physical therapy and rehabilitation for motor dysfunction (mainly spasticity and ataxia); and anti-seizure medications f... | Leukoencephalopathy with vanishing white matter |
What are the symptoms of GOMBO syndrome ? | What are the signs and symptoms of GOMBO syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for GOMBO 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... | GOMBO syndrome |
What are the symptoms of Fraser like syndrome ? | What are the signs and symptoms of Fraser like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fraser 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 MedlinePlus Medical Dic... | Fraser like syndrome |
What are the symptoms of Axial osteomalacia ? | What are the signs and symptoms of Axial osteomalacia? The Human Phenotype Ontology provides the following list of signs and symptoms for Axial osteomalacia. 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... | Axial osteomalacia |
What is (are) Acromegaly ? | Acromegaly is a hormonal disorder that results from the pituitary gland producing too much growth hormone (GH). It is most often diagnosed in middle-aged adults, although symptoms can appear at any age. Signs and symptoms include abnormal growth and swelling of the hands and feet; bone changes that alter various facial... | Acromegaly |
What are the symptoms of Acromegaly ? | What are the signs and symptoms of Acromegaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Acromegaly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up t... | Acromegaly |
What is (are) Donnai-Barrow syndrome ? | Donnai Barrow syndrome is an inherited disorder that affects many parts of the body. People with this condition generally have characteristic facial features, severe sensorineural hearing loss, vision problems and an absent or underdeveloped corpus callosum (the tissue connecting the left and right halves of the brain)... | Donnai-Barrow syndrome |
What are the symptoms of Donnai-Barrow syndrome ? | What are the signs and symptoms of Donnai-Barrow syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Donnai-Barrow 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... | Donnai-Barrow syndrome |
What is (are) Mantle cell lymphoma ? | Mantle cell lymphoma (MCL) belongs to a group of diseases known as non-Hodgkins lymphomas (NHL), which are cancers that affect the the lymphatic system (part of the immune system). MCL accounts for 6% of all non-Hodgkin lymphomas and is mostly found in males during their early 60s. Lymphocytes, which are white blood c... | Mantle cell lymphoma |
What are the symptoms of Mantle cell lymphoma ? | What are the signs and symptoms of Mantle cell lymphoma? Common symptoms of Mantle cell lymphoma include fatigue, loss of appetite, and enlarged lymph nodes, spleen, and/or liver. Other symptoms may include night sweats, unexplained high fevers, and weight loss. The Human Phenotype Ontology provides the following list ... | Mantle cell lymphoma |
What causes Mantle cell lymphoma ? | What causes Mantle cell lymphoma? Most lymphomas are not inherited, but rather an acquired disease in which the DNAwithin the cells has been damaged. Damage to the DNA occurs by a combination of different factors. Many mantle cell lymphomas are found to be associated with a chromsosome translocation. Some causes of non... | Mantle cell lymphoma |
How to diagnose Mantle cell lymphoma ? | How is Mantle cell lymphoma diagnosed? Mantle cell lymphoma is diagnosed by a biopsy (surgical removal) of the lymph nodes. If lymph nodes are not easily accessible to be biopsied, a fine needle aspiration may be performed, but the diagnosis will not be definite. Chromosome translocations in Mantle cell lymphoma can be... | Mantle cell lymphoma |
What are the treatments for Mantle cell lymphoma ? | How might Mantle cell lympoma be treated? Various treatmentsare currently available for Mantle cell lymphomas. Rare cases of early stage mantle cell lymphomas may be treated with radiation therapy. For more advance stagestreatment includes chemotherapy, immunotherapy, bone marrow transplant, and medication. | Mantle cell lymphoma |
What is (are) Fibrous dysplasia ? | Fibrous dysplasia is a skeletal disorder that is characterized by the replacement of normal bone with fibrous bone tissue. It may involve one bone (monostotic) or multiple bones (polyostotic). Fibrous dysplasia can affect any bone in the body. The most common sites are the bones in the skull and face, the long bones in... | Fibrous dysplasia |
What are the symptoms of Fibrous dysplasia ? | What are the symptoms of fibrous dysplasia? Fibrous dysplasia may cause no symptoms, mild symptoms, or severe symptoms. The most common symptoms are bone pain, bone deformities, fractures, and skin pigmentation differences (light brown spots on the skin). The problems that a person experiences depend on the specific bo... | Fibrous dysplasia |
What causes Fibrous dysplasia ? | What causes fibrous dysplasia? The cause of fibrous dysplasia has been linked to a gene mutation that occurs after conception, in the early stages of fetal development. The mutation involves a gene that affects the cells that produce bone. People with fibrous dysplasia carry this mutation in some, but not all cells of ... | Fibrous dysplasia |
What are the treatments for Fibrous dysplasia ? | How might fibrous dysplasia be treated? Unfortunately, there is no cure for fibrous dysplasia. Treatment depends on the symptoms that develop. Fractures often require surgery, but can sometimes be treated with casting or splints.] Surgery is most appropriate in cases where fractures are likely to occur, or where bones ... | Fibrous dysplasia |
What is (are) Early Infantile Epileptic Encephalopathy ? | Ohtahara syndrome is a neurological disorder characterized by seizures. The disorder affects newborns, usually within the first three months of life (most often within the first 10 days) in the form of epileptic seizures. Infants have primarily tonic seizures (which cause stiffening of muscles of the body, generally ... | Early Infantile Epileptic Encephalopathy |
What are the symptoms of Charcot-Marie-Tooth disease type 2O ? | What are the signs and symptoms of Charcot-Marie-Tooth disease type 2O? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2O. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | Charcot-Marie-Tooth disease type 2O |
What are the symptoms of Mac Dermot Winter syndrome ? | What are the signs and symptoms of Mac Dermot Winter syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Mac Dermot Winter 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... | Mac Dermot Winter syndrome |
What is (are) Familial osteochondritis dissecans ? | Osteochondritis dissecans is a joint condition that occurs when a piece of cartilage and the thin layer of bone beneath it, separates from the end of the bone. If the piece of cartilage and bone remain close to where they detached, they may not cause any symptoms. However, affected people may experience pain, weakness ... | Familial osteochondritis dissecans |
What are the symptoms of Familial osteochondritis dissecans ? | What are the signs and symptoms of Familial osteochondritis dissecans? The signs and symptoms of osteochondritis dissecans vary from person to person. If the piece of cartilage and bone remain close to where they detached, they may not cause any symptoms. However, affected people may experience the following if the car... | Familial osteochondritis dissecans |
What causes Familial osteochondritis dissecans ? | What causes osteochondritis dissecans? In most cases, the exact underlying cause of osteochondritis dissecans is not completely understood. Scientists suspect that it may be due to decreased blood flow to the end of the affected bone, which may occur when repetitive episodes of minor injury and/or stress damage a bone ... | Familial osteochondritis dissecans |
How to diagnose Familial osteochondritis dissecans ? | How is osteochondritis dissecans diagnosed? A diagnosis of osteochondritis dissecans is usually suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. These test may include x-rays, magnetic resonance imaging (MRI) and/or computed tomograph... | Familial osteochondritis dissecans |
What are the treatments for Familial osteochondritis dissecans ? | How might osteochondritis dissecans be treated? The primary aim of treatment for osteochondritis dissecans is to restore normal function of the affected joint, relieve pain and prevent osteoarthritis. Treatment for the condition varies depending on many factors including the age of the affected person and the severity ... | Familial osteochondritis dissecans |
What is (are) Cohen syndrome ? | Cohen syndrome is a congenital (present since birth) condition that was first described in 1973 by Dr. M.M. Cohen, Jr. When the syndrome was first described, it was believed that its main features were obesity, hypotonia (low muscle tone), intellectual disabilities, distinctive facial features with prominent upper cent... | Cohen syndrome |
What are the symptoms of Cohen syndrome ? | What are the signs and symptoms of Cohen syndrome? The signs and symptoms of Cohen syndrome may vary greatly from person to person. Some studies have suggested that a large number of people with Cohen syndrome have similar facial features regardless of ethnic background, including thick hair and eyebrows, long eyelashe... | Cohen syndrome |
How to diagnose Cohen syndrome ? | How is Cohen syndrome diagnosed? The diagnosis of Cohen syndrome is based on the symptoms present in the patient, but because the symptoms vary greatly from person to person, no consensus diagnostic criteria exist. Genetic testing is available for COH1, the only gene known to be associated with Cohen syndrome. However,... | Cohen syndrome |
What are the treatments for Cohen syndrome ? | How is Cohen syndrome treated? There is no cure for Cohen syndrome. Treatment is focused on improving or alleviating the signs and symptoms in the patient. Typically, when a person is first diagnosed with Cohen syndrome, he or she will undergo an eye and blood examination. If vision problems are detected, early correct... | Cohen syndrome |
What is (are) Aplasia cutis congenita ? | Aplasia cutis congenita is a condition in which there is congenital (present from birth) absence of skin, with or without the absence of underlying structures such as bone. It most commonly affects the scalp, but any location of the body can be affected. While most people with aplasia cutis congenita have no other abno... | Aplasia cutis congenita |
What are the symptoms of Aplasia cutis congenita ? | What are the signs and symptoms of Aplasia cutis congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Aplasia cutis congenita. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medic... | Aplasia cutis congenita |
What causes Aplasia cutis congenita ? | What causes aplasia cutis congenita? There is no one cause for all cases of aplasia cutis congenita. The condition is thought to be multifactorial, which means that several factors likely interact to cause the condition. Factors that may contribute include genetic factors; teratogens (exposures during pregnancy that ca... | Aplasia cutis congenita |
What are the treatments for Aplasia cutis congenita ? | How might aplasia cutis congenita be treated? The management of aplasia cutis congenita of the scalp is controversial.; both surgical and conservative treatment modalities have their proponents and opponents. The decision to use medical, surgical, or both forms of therapy in aplasia cutis congenita depends primarily on... | Aplasia cutis congenita |
What are the symptoms of Cleft palate stapes fixation oligodontia ? | What are the signs and symptoms of Cleft palate stapes fixation oligodontia? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleft palate stapes fixation oligodontia. If the information is available, the table below includes how often the symptom is seen in people with this condition.... | Cleft palate stapes fixation oligodontia |
What is (are) Hyper-IgD syndrome ? | Hyper IgD syndrome is an inflammatory genetic disorder characterized by periodic episodes of fever associated with additional symptoms including joint pain, skin rash and abdominal pain. Most episodes last several days and occur periodically throughout life. The frequency of episodes and their severity vary greatly fro... | Hyper-IgD syndrome |
What are the symptoms of Hyper-IgD syndrome ? | What are the signs and symptoms of Hyper-IgD syndrome? Hyper IgD syndrome is characterized by periodic high fevers accompanied by lymphadenopathy, abdominal pain, diarrhea, headache, joint pain, hepatomegaly and/or splenomegaly, and skin lesions. Most episodes last several days and occur periodically throughout life. T... | Hyper-IgD syndrome |
What causes Hyper-IgD syndrome ? | What causes hyper IgD syndrome? Hyper IgD syndrome is caused by mutations in the gene encoding the enzyme mevalonate kinase (MVK). The mutations lead to a decrease in the enzymatic activity of the gene. The gene is located at chromosome 12q24. | Hyper-IgD syndrome |
Is Hyper-IgD syndrome inherited ? | Is hyper IgD syndrome inherited? Hyper IgD syndrome is inherited in an autosomal recessive manner, 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 symptom... | Hyper-IgD syndrome |
What are the treatments for Hyper-IgD syndrome ? | How might hyper IgD syndrome be treated? There is no cure for hyper IgD syndrome and currently no established treatment. Management is focused on supportive care. Some patients have responded to high-dose prednisone. Simvastatin, Anakinria (an IL-1 receptor antagonist) and TNF inhibitors have recently shown some succe... | Hyper-IgD syndrome |
What is (are) Triploidy ? | Triploidy is a chromosome abnormality that occurs when there is an extra set of chromosomes present in each cell. Most pregnancies affected by triploidy are lost through early miscarriage. However, reports exist of some affected babies living up to five months. Those that survive are often mosaic. The signs and symptom... | Triploidy |
What are the symptoms of Triploidy ? | What are the signs and symptoms of Triploidy? The Human Phenotype Ontology provides the following list of signs and symptoms for Triploidy. 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... | Triploidy |
What is (are) Developmental dysphasia familial ? | Developmental dysphasia is a language disorder that develops in children. The disorder typically involves difficulties speaking and understanding spoken words. The symptoms cannot be attributed to sensorimotor, intellectual deficits, autism spectrum, or other developmental impairments. Likewise it does not occur as the... | Developmental dysphasia familial |
What is (are) Chilaiditi syndrome ? | Chilaiditi syndrome is a medical condition in which a portion of the colon is abnormally positioned between the liver and the diaphragm. Symptoms vary, but may include abdominal pain, nausea, vomiting, and small bowel obstruction. In many cases, there are no symptoms and the interposition is an incidental finding. When... | Chilaiditi syndrome |
What are the symptoms of Chilaiditi syndrome ? | What are the signs and symptoms of Chilaiditi syndrome? The symptoms of Chilaiditi syndrome vary. Chronic recurrent abdominal pain is a common finding. Other symptoms might include nausea, vomiting, constipation, indigestion, difficulty swallowing, and abdominal tenderness, especially in the upper, central area. In som... | Chilaiditi syndrome |
What causes Chilaiditi syndrome ? | What causes Chilaiditi syndrome? The exact cause of Chilaiditi syndrome is unknown. The condition appears to occur with higher frequency among individuals with chronic lung disease, scarring of the liver (cirrhosis), and in those with an accumulation of ascites in the abdomen. Other risk factors may include reduced liv... | Chilaiditi syndrome |
What are the treatments for Chilaiditi syndrome ? | How might Chilaiditi syndrome be treated? Treatment of Chilaiditi syndrome is directed at the individual symptoms present. In some cases, treatment is not needed. Reducing (or removing) the pressure within the abdomen may help alleviate symptoms. This may be achieved through conservative measure that address constipati... | Chilaiditi syndrome |
What are the symptoms of Microphthalmia syndromic 5 ? | What are the signs and symptoms of Microphthalmia syndromic 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 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... | Microphthalmia syndromic 5 |
What is (are) Intrahepatic cholestasis of pregnancy ? | Intrahepatic cholestasis of pregnancy (ICP) is a disorder of the liver that occurs in women during pregnancy. Cholestasis is a condition that impairs the release of bile (a digestive juice) from liver cells. The bile then builds up in the liver, impairing liver function. Symptoms typically become apparent in the third ... | Intrahepatic cholestasis of pregnancy |
What are the symptoms of Intrahepatic cholestasis of pregnancy ? | What are the signs and symptoms of Intrahepatic cholestasis of pregnancy? The Human Phenotype Ontology provides the following list of signs and symptoms for Intrahepatic cholestasis of pregnancy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | Intrahepatic cholestasis of pregnancy |
What causes Intrahepatic cholestasis of pregnancy ? | What causes intrahepatic cholestasis of pregnancy? Largely, the cause of intrahepatic cholestasis of pregnancy (ICP) is unknown. ICP is present in approximately 1% of pregnancies in the United States. It is thought to be caused by a mixture of genetic, hormonal, and environmental factors. Risk factors include: A person... | Intrahepatic cholestasis of pregnancy |
How to diagnose Intrahepatic cholestasis of pregnancy ? | How is intrahepatic cholestasis of pregnancy diagnosed? Intrahepatic cholestasis of pregnancy (ICP) is suspected during pregnancy when symptoms of itching (pruritis) present after 25 weeks of gestation with absence of a rash or underlying maternal liver disease. The diagnosis is typically confirmed with the finding of ... | Intrahepatic cholestasis of pregnancy |
What are the treatments for Intrahepatic cholestasis of pregnancy ? | How might intrahepatic cholestasis of pregnancy be treated? Treatment for intrahepatic cholestasis of pregnancy aims to relieve itching and prevent complications. Medications utilized to relieve itching might include ursodiol (Actigall, Urso), which helps decrease the level of bile in the mother's bloodstream, relieve... | Intrahepatic cholestasis of pregnancy |
What is (are) Tyrosinemia type 3 ? | Tyrosinemia type 3 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. This condition is caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase, one of the enzymes required for the multi-step process that breaks down tyrosine. Thi... | Tyrosinemia type 3 |
What are the symptoms of Tyrosinemia type 3 ? | What are the signs and symptoms of Tyrosinemia type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Tyrosinemia 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 Medical Diction... | Tyrosinemia type 3 |
What are the symptoms of Maturity-onset diabetes of the young, type 5 ? | What are the signs and symptoms of Maturity-onset diabetes of the young, type 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Maturity-onset diabetes of the young, type 5. If the information is available, the table below includes how often the symptom is seen in people with this co... | Maturity-onset diabetes of the young, type 5 |
What are the symptoms of Alpha-ketoglutarate dehydrogenase deficiency ? | What are the signs and symptoms of Alpha-ketoglutarate dehydrogenase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Alpha-ketoglutarate dehydrogenase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this co... | Alpha-ketoglutarate dehydrogenase deficiency |
What are the symptoms of Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features ? | What are the signs and symptoms of Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features. If the information is available,... | Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features |
What are the symptoms of Meckel syndrome type 3 ? | What are the signs and symptoms of Meckel syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Meckel 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 Medical... | Meckel syndrome type 3 |
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