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What is (are) Fibrolamellar carcinoma ? | Fibrolamellar carcinoma (FLC) is a rare form of liver cancer which is generally diagnosed in adolescents and young adults (before age 40). Many people with early FLC have no signs or symptoms of the condition. When present, symptoms are often nonspecific (i.e. abdominal pain, weight loss, malaise) and blamed on other, ... |
What are the symptoms of Fibrolamellar carcinoma ? | What are the signs and symptoms of Fibrolamellar carcinoma? Many people with early fibrolamellar carcinoma (FLC) have no signs or symptoms of the condition. When present, symptoms are often nonspecific and blamed on other, more common conditions. Some people affected by FLC may experience the following: Abdominal pain ... |
What causes Fibrolamellar carcinoma ? | What causes fibrolamellar carcinoma? The exact underlying cause of fibrolamellar carcinoma (FLC) is poorly understood. Other forms of liver cancer are often associated with liver cirrhosis (scarring of the liver) which may be caused by alcohol abuse; autoimmune diseases of the liver; Hepatitis B or C viral infections; ... |
How to diagnose Fibrolamellar carcinoma ? | How is fibrolamellar carcinoma diagnosed? If fibrolamellar carcinoma (FLC) is suspected based on the presence of certain signs and symptoms, imaging studies such as ultrasound, MRI scan and/or CT scan are typically recommended for diagnosis and staging. Unlike other forms of liver cancer, serum alpha fetoprotein is typ... |
What are the treatments for Fibrolamellar carcinoma ? | How might fibrolamellar carcinoma be treated? The standard treatment for fibrolamellar carcinoma (FLC) is surgical resection. Due to the rarity of the condition, there is limited information to support the use of other treatment options and there is no standard chemotherapy regimen. However, other treatments may be con... |
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... |
What is (are) Phaeohyphomycosis ? | Phaeohyphomycosis refers to fungal infections caused by dematiaceous (darkly, pigmented fungi). It can be associated with a variety of clinical syndromes including invasive sinusitis; nodules or abscesses beneath the skin; keratitis; lung masses; osteomyelitis; mycotic arthritis; endocarditis; brain abscess; and wide-s... |
What is (are) HAIR-AN syndrome ? | HAIR-AN syndrome is a condition that affects women. It is characterized by hyperandrogenism, insulin resistance, and acanthosis nigricans. Insulin resistance is a condition in which the body produces insulin but does not use it properly. This causes the pancreas to produce more insulin. High levels of insulin stimulate... |
What are the symptoms of Optic atrophy 2 ? | What are the signs and symptoms of Optic atrophy 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy 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... |
What is (are) Calciphylaxis ? | Calciphylaxis is a disease in which blood vessels (veins and arteries) become blocked by a build-up of calcium in the walls of the vessels, preventing blood from flowing to the skin or internal organs. The lack of blood flow (ischemia) damages healthy tissue and causes it to die (necrosis). The most obvious and frequ... |
What is (are) Non-A-E hepatitis ? | Non-A-E hepatitis, sometimes referred to as hepatitis X, is a disease of the liver that is diagnosed when there is swelling of the liver (hepatitis) but examination and testing does not identify a cause. Symptoms of non-A-E hepatitis may include feeling tired or unwell (malaise), nausea, vomiting, pain in the abdomen,... |
What are the symptoms of Atrial myxoma, familial ? | What are the signs and symptoms of Atrial myxoma, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Atrial myxoma, familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medic... |
What are the symptoms of Bardet-Biedl syndrome 2 ? | What are the signs and symptoms of Bardet-Biedl syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 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 Medic... |
What are the symptoms of Ichthyosis alopecia eclabion ectropion mental retardation ? | What are the signs and symptoms of Ichthyosis alopecia eclabion ectropion mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis alopecia eclabion ectropion mental retardation. If the information is available, the table below includes how often the symptom is s... |
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 ... |
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... |
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... |
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 ... |
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... |
What is (are) Diabetic mastopathy ? | Diabetic mastopathy are noncancerous lesions in the breast most commonly diagnosed in premenopausal women with type 1 diabetes. The cause of this condition is unknown. Symptoms may include hard, irregular, easily movable, discrete, painless breast mass(es). |
What are the symptoms of Diabetic mastopathy ? | What are the symptoms of diabetic mastopathy? Common symptoms of diabetic mastopathy include hard, irregular, easily movable, discrete, painless breast mass(es). This condition can involve one or both breasts and can affect males and females. The breast lesions may not be palpable in some patients. Patients with diabet... |
What causes Diabetic mastopathy ? | What causes diabetic mastopathy? The cause of diabetic mastopathy is unknown. Theories include an autoimmune reaction, genetic factors such as human leukocyte antigen (HLA) type, association with insulin therapy, and association with hyperglycemia. |
How to diagnose Diabetic mastopathy ? | How is diabetic mastopathy diagnosed? The diagnosis of diabetic mastopathy should be considered in patients with long-standing insulin-dependent diabetes and a firm, mobile breast mass. Initial imaging may include mammography and ultrasound. While these methods can help to further differentiate the mass, they cannot pr... |
What are the treatments for Diabetic mastopathy ? | How is diabetic mastopathy treated? Diabetic mastopathy is a benign condition and should be managed as such. Patients should be advised about the condition and how to self examine the breasts. They should be advised that iif there are any changes in size and number of breast lumps that they should consult their breast ... |
What are the symptoms of Multiple epiphyseal dysplasia 3 ? | What are the signs and symptoms of Multiple epiphyseal dysplasia 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple epiphyseal dysplasia 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 M... |
What are the symptoms of Pachygyria with mental retardation and seizures ? | What are the signs and symptoms of Pachygyria with mental retardation and seizures? The Human Phenotype Ontology provides the following list of signs and symptoms for Pachygyria with mental retardation and seizures. If the information is available, the table below includes how often the symptom is seen in people with t... |
What is (are) Multiple pterygium syndrome Escobar type ? | Multiple pterygium syndrome, Escobar type is characterized by webbing of the neck, elbows, and/or knees, and joint contractures. Symptoms of Escobar syndrome are present from birth. It can be caused by mutations in the CHRNG gene. It tends to be inherited in an autosomal recessive fashion. |
What are the symptoms of Multiple pterygium syndrome Escobar type ? | What are the signs and symptoms of Multiple pterygium syndrome Escobar type? Symptoms of multiple pterygium syndrome, Escobar type vary but may include short stature, vertebral (spine) defects, joint contractures, and webbing of the neck, armpit, elbow, knee, between the legs, and of the fingers and toes. The joint con... |
What causes Multiple pterygium syndrome Escobar type ? | What causes multiple pterygium syndrome, Escobar type? Some cases of multiple pterygium syndrome, Escobar type are caused by mutations in the CHRNG gene. There are likely other causes of this syndrome as well which have not yet been identified. As a result, in some cases the cause for the syndrome can not be determined... |
How to diagnose Multiple pterygium syndrome Escobar type ? | How is multiple pterygium syndrome, Escobar type diagnosed? Multiple pterygium syndrome, Escobar type is diagnosed based on signs and symptoms in the patient. This syndrome should be considered in patients with webs across different body joints, particularly if additional signs and symptoms are present (e.g., subtle fa... |
What are the treatments for Multiple pterygium syndrome Escobar type ? | How is multiple pterygium syndrome, Escobar type treated? There is currently no cure for multiple pterygium syndrome, Escobar type. As a result treatment is aimed at managing the associated symptoms. Orthopedics should be involved for issues arising from scoliosis. Infections should be treated promptly. Contracture rel... |
What are the symptoms of Retinoschisis autosomal dominant ? | What are the signs and symptoms of Retinoschisis autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinoschisis autosomal dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... |
What are the symptoms of Vocal cord dysfunction familial ? | What are the signs and symptoms of Vocal cord dysfunction familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Vocal cord dysfunction familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the M... |
What are the symptoms of Dwarfism, mental retardation and eye abnormality ? | What are the signs and symptoms of Dwarfism, mental retardation and eye abnormality? The Human Phenotype Ontology provides the following list of signs and symptoms for Dwarfism, mental retardation and eye abnormality. If the information is available, the table below includes how often the symptom is seen in people with... |
What are the symptoms of Meleda disease ? | What are the signs and symptoms of Meleda disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Meleda disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to l... |
What are the symptoms of Autosomal dominant compelling helio ophthalmic outburst syndrome ? | What are the signs and symptoms of Autosomal dominant compelling helio ophthalmic outburst syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant compelling helio ophthalmic outburst syndrome. If the information is available, the table below includes how often th... |
What are the symptoms of Osteogenesis imperfecta type II ? | What are the signs and symptoms of Osteogenesis imperfecta type II? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta type II. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the M... |
What is (are) Creutzfeldt-Jakob disease ? | Creutzfeldt-Jakob disease (CJD) is a rare fatal brain disorder that usually occurs later in life and runs a rapid course. In the early stages of the disease, patients may have failing memory, behavior changes, impaired coordination, and vision problems. As CJD progresses, mental deterioration becomes severe, and they c... |
What are the symptoms of Creutzfeldt-Jakob disease ? | What are the signs and symptoms of Creutzfeldt-Jakob disease? Creutzfeldt-Jakob disease (CJD) is characterized by rapidly progressive dementia. Initially, patients experience problems with muscular coordination; personality changes, including impaired memory, judgment, and thinking; and impaired vision. People with the... |
What causes Creutzfeldt-Jakob disease ? | What causes Creutzfeldt-Jakob disease? Some researchers believe an unusual 'slow virus' or another organism causes Creutzfeldt-Jakob disease (CJD). However, they have never been able to isolate a virus or other organism in people with the disease. Furthermore, the agent that causes CJD has several characteristics that ... |
How to diagnose Creutzfeldt-Jakob disease ? | How is Creutzfeldt-Jakob disease diagnosed? There is currently no single diagnostic test for Creutzfeldt-Jakob disease (CJD). When a doctor suspects CJD, the first concern is to rule out treatable forms of dementia such as encephalitis (inflammation of the brain) or chronic meningitis. A neurological examination will b... |
What are the treatments for Creutzfeldt-Jakob disease ? | How might Creutzfeldt-Jakob disease be treated? There is no treatment that can cure or control Creutzfeldt-Jakob disease (CJD). Researchers have tested many drugs, including amantadine, steroids, interferon, acyclovir, antiviral agents, and antibiotics. Studies of a variety of other drugs are now in progress. However, ... |
What is (are) Oligoastrocytoma ? | Oligoastrocytoma is a brain tumor that forms when two types of cells in the brain, called oligodendrocytes and astrocytes, rapidly increase in number to form a mass. These brain cells are known as glial cells, which normally protect and support nerve cells in the brain. Because an oligoastrocytoma is made up of a com... |
What are the symptoms of Dysautonomia like disorder ? | What are the signs and symptoms of Dysautonomia like disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Dysautonomia like disorder. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus... |
What is (are) Juvenile temporal arteritis ? | Juvenile temporal arteritis is a rare form of vasculitis, a group of conditions that cause inflammation of the blood vessels. Unlike the classic form of temporal arteritis, this condition is generally diagnosed in late childhood or early adulthood and only affects the temporal arteries (located at the lower sides of th... |
What are the symptoms of Pulmonary venous return anomaly ? | What are the signs and symptoms of Pulmonary venous return anomaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary venous return anomaly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the M... |
What is (are) Febrile Ulceronecrotic Mucha-Habermann disease ? | Febrile ulceronecrotic Mucha-Habermann disease (FUMHD) is a rare and severe form of pityriasis lichenoides et varioliformis acuta (PLEVA). PLEVA is characterized by skin lesions that ulcerate, breakdown, form open sores, then form a red-brown crust. FUMHD often begins as PLEVA, but then rapidly and suddenly progresses ... |
What are the symptoms of Febrile Ulceronecrotic Mucha-Habermann disease ? | What are the signs and symptoms of febrile ulceronecrotic Mucha-Habermann disease? Initial symptoms of FUMHD include red scaly skin legions (papules) that ulcerate, breakdown, form open sores, then a red-brown crust (i.e., PLEVA). In FUMHD the legions suddenly progress to large, destructive ulcers and can be associate... |
What causes Febrile Ulceronecrotic Mucha-Habermann disease ? | What causes febrile ulceronecrotic Mucha-Habermann disease? The cause of FUMHD is not known (idiopathic). A hypersensitivity to an infectious agent is suggested to be the main cause. Single cases of people with FUMHD and Epstein-Barr virus infection, adenovirus, or cytomegalovirus have been reported, but there has been... |
How to diagnose Febrile Ulceronecrotic Mucha-Habermann disease ? | How is febrile ulceronecrotic Mucha-Habermann disease definitively diagnosed? FUMHD is diagnosed based upon the clinical symptoms in the patient, with confirmation by skin biopsy. Skin biopsy findings suggestive of FUMHD are outlined below. Because this information is technical we recommend that you review it with a he... |
What are the treatments for Febrile Ulceronecrotic Mucha-Habermann disease ? | How is febrile ulceronecrotic Mucha-Habermann disease (FUMHD) treated? It is important that FUMHD is diagnosed and treated as soon as possible. While a number of treatments have been tried, it is hard to asses the benefit of the therapies because there are so few cases of FUMHD and among reported cases the treatment ap... |
What is (are) Peyronie disease ? | Peyronie disease is a connective tissue disorder characterized by a plaque, or hard lump, that forms within the penis. Affected individuals may experience painful, curved erections which can make make normal sexual intercourse impossible. Symptoms may appear suddenly or develop gradually. While the painful erections fo... |
What are the symptoms of Peyronie disease ? | What are the signs and symptoms of Peyronie disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Peyronie disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary ... |
What is (are) Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ? | Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) is a milder and later onset form of a genetic condition known as congenital adrenal hyperplasia. Some people affected by the condition have no associated signs and symptoms while others experience symptoms of androgen (male hormone) exce... |
What are the symptoms of Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ? | What are the signs and symptoms of Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency? The signs and symptoms of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) may develop any time after birth. Affected people generally experience symptoms of androgen (male h... |
What causes Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ? | What causes non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency? Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) is caused by changes (mutations) in the CYP21A2 gene. This gene provides instructions for making an enzyme called 21-hydroxylase, which is found in ... |
Is Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency inherited ? | Is non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency inherited? Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) 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... |
How to diagnose Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ? | How is non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency diagnosed? A diagnosis of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm... |
What are the treatments for Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ? | How might non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency be treated? In some cases, people affected by non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) may not require any treatment. Many are asymptomatic throughout their lives, although symptoms may develo... |
What is (are) Brooke-Spiegler syndrome ? | Brooke-Spiegler syndrome is a condition characterized by multiple skin tumors that develop from structures associated with the skin, such as sweat glands and hair follicles. People with Brooke-Spiegler syndrome may develop several types of tumors, including growths called spiradenomas, trichoepitheliomas, and cylindrom... |
What are the symptoms of Brooke-Spiegler syndrome ? | What are the signs and symptoms of Brooke-Spiegler syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Brooke-Spiegler 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 Med... |
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... |
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 ... |
What are the symptoms of Juvenile idiopathic arthritis ? | What are the signs and symptoms of Juvenile idiopathic arthritis? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile idiopathic 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 Medli... |
What are the symptoms of Synostoses, tarsal, carpal, and digital ? | What are the signs and symptoms of Synostoses, tarsal, carpal, and digital? The Human Phenotype Ontology provides the following list of signs and symptoms for Synostoses, tarsal, carpal, and digital. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... |
What are the symptoms of Temporal epilepsy, familial ? | What are the signs and symptoms of Temporal epilepsy, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Temporal epilepsy, familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePl... |
What are the symptoms of Anophthalmos with limb anomalies ? | What are the signs and symptoms of Anophthalmos with limb anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Anophthalmos with limb anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... |
What is (are) Long QT syndrome 8 ? | Timothy syndrome is a type of long QT syndrome. It affects many parts of the body including the heart, fingers, toes, face, and the nervous system. It is characterized by long QT syndrome, although some people with Timothy syndrome also have other heart defects that affect the hearts ability to pump blood effectively. ... |
What are the symptoms of Long QT syndrome 8 ? | What are the signs and symptoms of Long QT syndrome 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Long QT syndrome 8. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Diction... |
What are the symptoms of Amish lethal microcephaly ? | What are the signs and symptoms of Amish lethal microcephaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Amish lethal microcephaly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus M... |
What is (are) Noonan syndrome 1 ? | Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndr... |
What are the symptoms of Noonan syndrome 1 ? | What are the signs and symptoms of Noonan syndrome 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan syndrome 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionar... |
What are the treatments for Noonan syndrome 1 ? | How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. Developmental disabi... |
What is (are) Craniometaphyseal dysplasia, autosomal recessive type ? | Autosomal recessive craniometaphyseal dysplasia is a genetic skeletal condition characterized by progressive thickening of bones in the skull (cranium) and abnormalities at the ends of long bones in the limbs (metaphyseal dysplasia). The overgrowth of bone in the head can lead to distinctive facial features and delayed... |
What are the symptoms of Craniometaphyseal dysplasia, autosomal recessive type ? | What are the signs and symptoms of Craniometaphyseal dysplasia, autosomal recessive type? Bone overgrowth in the head causes many of the signs and symptoms of craniometaphyseal dysplasia. Affected individuals typically have distinctive facial features such as a wide nasal bridge, a prominent forehead, wide-set eyes (hy... |
What causes Craniometaphyseal dysplasia, autosomal recessive type ? | What causes autosomal recessive craniometaphyseal dysplasia? Autosomal recessive craniometaphyseal dysplasia is caused by mutations in the GJA1 gene. The GJA1 gene provides instructions for making a protein called connexin43, which is one of 21 connexin proteins in humans. Connexins lay a role in cell-to-cell communica... |
What are the treatments for Craniometaphyseal dysplasia, autosomal recessive type ? | How might craniometaphyseal dysplasia be treated? Treatment consists primarily of surgery to reduce compression of cranial nerves and the brain stem/spinal cord at the level of the foramen magnum. Severely overgrown facial bones can be contoured; however, surgical procedures can be technically difficult and bone regrow... |
What are the symptoms of Johnson neuroectodermal syndrome ? | What are the signs and symptoms of Johnson neuroectodermal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Johnson neuroectodermal 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... |
What is (are) Down syndrome ? | Down syndrome is a chromosome disorder associated with intellectual disability, a characteristic facial appearance, and low muscle tone in infancy. The degree of intellectual disability varies from mild to moderate. People with Down syndrome may also be born with various health concerns such as heart defects or digesti... |
What are the symptoms of Down syndrome ? | What are the signs and symptoms of Down syndrome? People with Down syndrome may develop the following medical problems: Congenital hypothyroidism Hearing loss Congenital heart defects Seizures Vision disorders Decreased muscle tone (hypotonia) Children with Down syndrome are also more likely to develop chronic respira... |
What causes Down syndrome ? | What causes Down syndrome? There are 3 possible genetic causes of Down syndrome: Trisomy 21. Most often, Down syndrome is caused by an extra chromosome 21 in all cells of the affected person. In these cases, the chromosome 21 pair fails to separate during the formation of an egg (or sperm); this is called "nondisjunct... |
How to diagnose Down syndrome ? | How is Down syndrome diagnosed? Down syndrome may be suspected and/or diagnosed during pregnancy, or after a child is born. During pregnancy, a woman can opt to have specific tests that may either screen for, or diagnosis, Down syndrome in a fetus. A screening test poses no risks to the fetus and can determine the like... |
What are the treatments for Down syndrome ? | How might Down syndrome be treated? Early intervention services, quality educational programs, a stimulating home environment, good health care, and positive support from family and friends can help people with Down syndrome develop to their full potential. The overall goal of treatment is to boost cognition by improvi... |
What are the symptoms of Taurodontia absent teeth sparse hair ? | What are the signs and symptoms of Taurodontia absent teeth sparse hair? The Human Phenotype Ontology provides the following list of signs and symptoms for Taurodontia absent teeth sparse hair. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... |
What is (are) Mnire's disease ? | Mnire's disease is an abnormality of the inner ear. Signs and symptoms may include disabling vertigo or severe dizziness lasting from minutes to hours; tinnitus or a roaring sound in the ears; fluctuating hearing loss; and the sensation of pressure or pain in the affected ear. A small percentage of people have drop att... |
What are the symptoms of Mnire's disease ? | What are the signs and symptoms of Mnire's disease? The symptoms of Mnire's disease typically occur suddenly and can arise daily, or as infrequently as once a year. Vertigo, often the most debilitating symptom of Mnire's disease, typically involves a whirling dizziness that forces the affected person to lie down. Verti... |
What causes Mnire's disease ? | What causes Mnire's disease? The underlying cause of Mnire's disease is unknown, although it probably results from a combination of environmental and genetic factors. Possible factors that have been studied include viral infections; trauma to the middle ear; middle ear infection (otitis media); head injury; a hereditar... |
How to diagnose Mnire's disease ? | How is Mnire's disease diagnosed? The hallmark of Mnire's disease is the fluctuation, waxing and waning of symptoms. Proper diagnosis of Mnire's disease entails several procedures, including a medical history interview; a physical examination; hearing and balance tests; and medical imaging with magnetic resonance imag... |
What are the treatments for Mnire's disease ? | How might Mnire's disease be treated? At the present time there is no cure for Mnire's disease, but there are several safe and effective medical and surgical therapies that are available to help individuals cope with the symptoms. The symptoms of the disease are often controlled successfully by reducing the bodys reten... |
What is (are) Giant congenital nevus ? | A giant congenital nevus is a dark-colored, often hairy patch of skin that is present at birth (congenital). It grows proportionally to the child. A congenital pigmented nevus is considered giant if by adulthood it is larger than 20cm (about 8 inches) in diameter. Giant congenital nevi can occur in people of any racial... |
What are the symptoms of Giant congenital nevus ? | What are the signs and symptoms of Giant congenital nevus? The Human Phenotype Ontology provides the following list of signs and symptoms for Giant congenital nevus. 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... |
What are the treatments for Giant congenital nevus ? | How might giant congenital nevus be treated? Treatment for giant congenital nevus depends on the age of the affected individual as well as the size, location, and thickness of the nevus. Surgery may be done to remove the nevus, particularly when there is a concern that it may develop into a melanoma. When small nevi ar... |
What is (are) Fournier gangrene ? | Fournier gangrene refers to the death of body tissue of the genitals and/or perineum. Signs and symptoms of the condition include genital pain, tenderness, redness, and swelling with a rapid progression to gangrene. Although the condition can affect men and women of all ages, it is most commonly diagnosed in adult male... |
What is (are) Alopecia totalis ? | Alopecia totalis (AT) is a condition characterized by the complete loss of hair on the scalp. It is an advanced form of alopecia areata a condition that causes round patches of hair loss. Although the exact cause of AT is unknown, it is thought to be an autoimmune condition in which the immune system mistakenly attacks... |
What are the symptoms of Alopecia totalis ? | What are the signs and symptoms of Alopecia totalis? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia totalis. 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 ... |
What are the symptoms of Camptobrachydactyly ? | What are the signs and symptoms of Camptobrachydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Camptobrachydactyly. 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... |
What is (are) Menetrier disease ? | Mntrier disease is a condition characterized by inflammation and ulcers of the mucosa (inner lining) of the stomach and by overgrowth of the cells that make up the mucosa. The condition is associated with the following signs: protein loss from the stomach, excessive mucus production, and hypochlorhydria (low levels of ... |
What are the symptoms of Menetrier disease ? | What are the signs and symptoms of Menetrier disease? Although some patients with Mntrier disease may not experience symptoms, most patients have stomach pain, diarrhea, weight loss, peripheral edema, and sometimes bleeding. The Human Phenotype Ontology provides the following list of signs and symptoms for Menetrier di... |
What causes Menetrier disease ? | What causes Mntrier disease? The exact cause of Mntrier disease is unknown. However, it has been associated with cytomegalovirus (CMV) infection in children and Heliobacter pylori (H. pylori) infection in adults. In addition, some have suggested that overexpression of a type of growth factor called the transforming gr... |
What are the treatments for Menetrier disease ? | What treatment is available for Mntrier disease? No one treatment has proven effective for all patients with Mntrier disease; however, some benefit has been shown through the use of anticholinergic drugs, acid suppression, octreotide, and H. pylori eradication. Partial or complete removal of the stomach is generally re... |
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