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Is Focal dermal hypoplasia inherited ? | How is this condition inherited? Focal dermal hypoplasia is caused by mutations in the PORCN gene and is inherited in an X-linked dominant manner. Many cases of focal dermal hypoplasia result from a new mutation and occur in people with no history of the disorder in their family For a woman affected with focal dermal h... | Focal dermal hypoplasia |
What are the symptoms of Homocarnosinosis ? | What are the signs and symptoms of Homocarnosinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Homocarnosinosis. 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 ... | Homocarnosinosis |
What is (are) Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia ? | Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia is a rare condition characterized by alopecia (hair loss); nail dystrophy (abnormal development of the nails); ophthalmic (eye-related) complications; thyroid dysfunction (primary hypothyroidism); hypohidrosis; ephelides (freckles); enteropath... | Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia |
What are the symptoms of Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia ? | What are the signs and symptoms of Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia. If the information is available, the table bel... | Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia |
What is (are) Biotin-thiamine-responsive basal ganglia disease ? | Biotin-thiamine-responsive basal ganglia disease is a rare condition that affects the brain and other parts of the nervous system. The severity of the condition and the associated signs and symptoms vary from person to person, even within the same family. Without early diagnosis and treatment, most affected people deve... | Biotin-thiamine-responsive basal ganglia disease |
What are the symptoms of Biotin-thiamine-responsive basal ganglia disease ? | What are the signs and symptoms of Biotin-thiamine-responsive basal ganglia disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Biotin-thiamine-responsive basal ganglia disease. If the information is available, the table below includes how often the symptom is seen in people with... | Biotin-thiamine-responsive basal ganglia disease |
What is (are) Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature ? | Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature, also known as CANDLE syndrome, is a rare autoinflammatory condition. Signs and symptoms generally develop during the first year of life and may include recurrent fevers, purpura, swollen eyelids, joint pain, contractures, developmenta... | Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature |
What are the symptoms of Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature ? | What are the signs and symptoms of Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature. If the information is availabl... | Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature |
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... | Mnire's disease |
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... | Mnire's disease |
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... | Mnire's disease |
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... | Mnire's disease |
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... | Mnire's disease |
What is (are) Eosinophilic fasciitis ? | Eosinophilic fasciitis is a very rare condition in which muscle tissue underneath the skin, called fascia, becomes swollen and thick. Rapid swelling can occur in the hands, arms, legs, and feet. People with this condition have a buildup of eosinophils, a type of white blood cell, in the affected fascia and muscles. The... | Eosinophilic fasciitis |
What are the symptoms of Eosinophilic fasciitis ? | What are the signs and symptoms of Eosinophilic fasciitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Eosinophilic fasciitis. 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... | Eosinophilic fasciitis |
What are the treatments for Eosinophilic fasciitis ? | How might eosinophilic fasciitis be treated? About 10-20% of people with eosinophilic fasciitis recover spontaneously without treatment. For those who do not, glucocorticoids (0.51 mg/kg/d), such as prednisone, are the mainstay therapy. Even with treatment, improvement in symptoms can take weeks or months. Glucocortic... | Eosinophilic fasciitis |
What are the symptoms of Madokoro Ohdo Sonoda syndrome ? | What are the signs and symptoms of Madokoro Ohdo Sonoda syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Madokoro Ohdo Sonoda syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli... | Madokoro Ohdo Sonoda syndrome |
What is (are) Myotonia congenita autosomal dominant ? | Myotonia congenita is a genetic condition characterized by the inability of the skeletal muscles to quickly relax after a voluntary movement. The symptoms associated with the condition typically appear in childhood and vary from person to person. There are two forms of the disorder: Becker type, which is the most com... | Myotonia congenita autosomal dominant |
What are the symptoms of Myotonia congenita autosomal dominant ? | What are the signs and symptoms of Myotonia congenita autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Myotonia congenita autosomal dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | Myotonia congenita autosomal dominant |
What is (are) Progressive pseudorheumatoid arthropathy of childhood ? | Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a disorder of bone and cartilage that affects many joints. Major signs and symptoms include stiff joints (contractures), short stature, and widening of the ends of the finger and toe bones as well as other tubular bones. PPAC may initially be mistaken for ... | Progressive pseudorheumatoid arthropathy of childhood |
What are the symptoms of Progressive pseudorheumatoid arthropathy of childhood ? | What are the signs and symptoms of Progressive pseudorheumatoid arthropathy of childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive pseudorheumatoid arthropathy of childhood. If the information is available, the table below includes how often the symptom is seen in p... | Progressive pseudorheumatoid arthropathy of childhood |
What are the symptoms of Autosomal recessive Charcot-Marie-Tooth disease with hoarseness ? | What are the signs and symptoms of Autosomal recessive Charcot-Marie-Tooth disease with hoarseness? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive Charcot-Marie-Tooth disease with hoarseness. If the information is available, the table below includes how often the ... | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness |
What are the symptoms of Conductive deafness with malformed external ear ? | What are the signs and symptoms of Conductive deafness with malformed external ear? The Human Phenotype Ontology provides the following list of signs and symptoms for Conductive deafness with malformed external ear. If the information is available, the table below includes how often the symptom is seen in people with t... | Conductive deafness with malformed external ear |
What is (are) Chromosome 8p deletion ? | Chromosome 8p deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of ... | Chromosome 8p deletion |
What are the symptoms of Monomelic amyotrophy ? | What are the signs and symptoms of Monomelic amyotrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Monomelic amyotrophy. 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... | Monomelic amyotrophy |
What are the symptoms of Palant cleft palate syndrome ? | What are the signs and symptoms of Palant cleft palate syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Palant cleft palate syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medline... | Palant cleft palate syndrome |
What are the symptoms of Optic atrophy polyneuropathy deafness ? | What are the signs and symptoms of Optic atrophy polyneuropathy deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy polyneuropathy deafness. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | Optic atrophy polyneuropathy deafness |
What are the symptoms of Corneal dystrophy Thiel Behnke type ? | What are the signs and symptoms of Corneal dystrophy Thiel Behnke type? The Human Phenotype Ontology provides the following list of signs and symptoms for Corneal dystrophy Thiel Behnke type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | Corneal dystrophy Thiel Behnke type |
What are the symptoms of Mutiple parosteal osteochondromatous proliferations ? | What are the signs and symptoms of Mutiple parosteal osteochondromatous proliferations? The Human Phenotype Ontology provides the following list of signs and symptoms for Mutiple parosteal osteochondromatous proliferations. If the information is available, the table below includes how often the symptom is seen in peopl... | Mutiple parosteal osteochondromatous proliferations |
What are the symptoms of Ectodermal dysplasia mental retardation syndactyly ? | What are the signs and symptoms of Ectodermal dysplasia mental retardation syndactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectodermal dysplasia mental retardation syndactyly. If the information is available, the table below includes how often the symptom is seen in people ... | Ectodermal dysplasia mental retardation syndactyly |
What is (are) Pityriasis lichenoides chronica ? | Pityriasis lichenoides chronica is the mild, chronic form of pityriasis lichenoides, a skin disorder of unknown cause. This condition is characterized by the gradual development of symptomless, small, scaling papules that spontaneously flatten and regress over a period of weeks or months. Lesions at various stages may ... | Pityriasis lichenoides chronica |
What are the symptoms of Pityriasis lichenoides chronica ? | What are the symptoms of pityriasis lichenoides chronica? Pityriasis lichenoides chronica usually starts out as a small pink papule that turns a reddish-brown color. There is usually a fine, mica-like adherent scale attached to the center which can be peeled off to reveal a shiny, pinkish brown surface. Over several we... | Pityriasis lichenoides chronica |
How to diagnose Pityriasis lichenoides chronica ? | How is pityriasis lichenoides chronica diagnosed? The clinical appearance of pityriasis lichenoides chronica suggests the diagnosis. However, since it can look like psoriasis, lichen planus, or the common bug bite, a skin biopsy is recommended to confirm the diagnosis. A dermatologist is the type of specialist who is m... | Pityriasis lichenoides chronica |
What are the treatments for Pityriasis lichenoides chronica ? | How might pityriasis lichenoides chronica be treated? Pityriasis lichenoides chronica may not always respond to treatment and relapses often occur when treatment is discontinued. If the rash is not causing symptoms, treatment may not be necessary. In cases where treatment is necessary, there are several different thera... | Pityriasis lichenoides chronica |
What is (are) Osteogenesis imperfecta type VI ? | Osteogenesis imperfecta type 6 is a form of osteogenesis imperfecta which results in weakened bones that breaks easily. When viewed under a microscope, bone tissue has a distinct "fish-scale" pattern. Individuals with osteogenesis imperfecta type 6 appear to be healthy at birth and do not have fractures until after 6... | Osteogenesis imperfecta type VI |
What are the symptoms of Osteogenesis imperfecta type VI ? | What are the signs and symptoms of Osteogenesis imperfecta type VI? Osteogenesis imperfecta type VI is a moderate to severe form of osteogenesis imperfecta that affects the bones but is distinctive in the bone characteristics at a microscopic level (histology). People with this condition have bones that are thin (oste... | Osteogenesis imperfecta type VI |
Is Osteogenesis imperfecta type VI inherited ? | How is osteogenesis imperfecta type 6 inherited? Osteogenesis imperfecta type 6 has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means that two copies of the gene in each cell are altered. The parents of a child with an autosomal recessive disorder typically are not affected, but each ... | Osteogenesis imperfecta type VI |
How to diagnose Osteogenesis imperfecta type VI ? | Is genetic testing available for osteogenesis imperfecta? Genetic testing is available for individuals with osteogenesis imperfecta. The rate for detecting mutations in the genes that are responsible for OI varies depending on the type. Carrier testing may be available to relatives of affected individuals if the type o... | Osteogenesis imperfecta type VI |
What are the symptoms of Autosomal recessive spastic ataxia 4 ? | What are the signs and symptoms of Autosomal recessive spastic ataxia 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive spastic ataxia 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | Autosomal recessive spastic ataxia 4 |
What are the symptoms of Fountain syndrome ? | What are the signs and symptoms of Fountain syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fountain 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... | Fountain syndrome |
What is (are) Mitochondrial genetic disorders ? | Mitochondrial genetic disorders refer to a group of conditions that affect the mitochondria (the structures in each cell of the body that are responsible for making energy). People with these conditions can present at any age with almost any affected body system; however, the brain, muscles, heart, liver, nerves, eyes,... | Mitochondrial genetic disorders |
What are the symptoms of Mitochondrial genetic disorders ? | What are the signs and symptoms of mitochondrial genetic disorders? People with mitochondrial genetic disorders can present at any age with almost any affected body system. While some conditions may only affect a single organ, many involve multiple organ systems including the brain, muscles, heart, liver, nerves, eyes,... | Mitochondrial genetic disorders |
What causes Mitochondrial genetic disorders ? | What causes mitochondrial genetic disorders? Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria. Most DNA (hereditary material that is passed from parent to child) is packaged within the nucleus of each cell (k... | Mitochondrial genetic disorders |
Is Mitochondrial genetic disorders inherited ? | Are mitochondrial genetic disorders inherited? Mitochondrial genetic disorder can be inherited in a variety of manners depending on the type of condition and the location of the disease-causing change (mutation). Those caused by mutations in mitochondrial DNA are transmitted by maternal inheritance. Only egg cells (not... | Mitochondrial genetic disorders |
How to diagnose Mitochondrial genetic disorders ? | How are mitochondrial genetic disorders diagnosed? Unfortunately, mitochondrial genetic disorders can be difficult to diagnose, and many affected people may never receive a specific diagnosis. They are often suspected in people who have a condition that effects multiple, unrelated systems of the body. In some cases, th... | Mitochondrial genetic disorders |
What are the treatments for Mitochondrial genetic disorders ? | How might mitochondrial genetic disorders be treated? Treatment for mitochondrial genetic disorders varies significantly based on the specific type of condition and the signs and symptoms present in each person. The primary aim of treatment is to alleviate symptoms and slow the progression of the condition. For example... | Mitochondrial genetic disorders |
What is (are) Neonatal progeroid syndrome ? | Neonatal progeroid syndrome is a rare genetic syndrome characterized by an aged appearance at birth. Other signs and symptoms include intrauterine growth restriction, feeding difficulties, distinctive craniofacial features, hypotonia, developmental delay and mild to severe intellectual disability. In most cases, affect... | Neonatal progeroid syndrome |
What are the symptoms of Neonatal progeroid syndrome ? | What are the signs and symptoms of Neonatal progeroid syndrome? The signs and symptoms of neonatal progeroid syndrome vary but may include: Subcutaneous lipoatrophy (deficiency or absence of the fat layer beneath the skin) which gives infants an aged appearance at birth Intrauterine growth restriction Failure to thrive... | Neonatal progeroid syndrome |
What causes Neonatal progeroid syndrome ? | What causes neonatal progeroid syndrome? The exact underlying cause of neonatal progeroid syndrome is unknown. Scientists suspect that it is a genetic condition; however, a disease-causing gene has not been identified. | Neonatal progeroid syndrome |
Is Neonatal progeroid syndrome inherited ? | Is neonatal progeroid syndrome inherited? Although the underlying genetic cause of neonatal progeroid syndrome is unknown, studies suggest that it is likely inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The ... | Neonatal progeroid syndrome |
How to diagnose Neonatal progeroid syndrome ? | How is neonatal progeroid syndrome diagnosed? A diagnosis of neonatal progeroid syndrome is made based on the presence of characteristic signs and symptoms. Rarely, a diagnosis may be suspected before birth if concerning features are viewed on ultrasound; however, most cases are diagnosed shortly after birth. | Neonatal progeroid syndrome |
What are the treatments for Neonatal progeroid syndrome ? | How might neonatal progeroid syndrome be treated? Because neonatal progeroid syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment varies based on the signs and symptoms present in each person. For example, a feeding ... | Neonatal progeroid syndrome |
What is (are) Hypophosphatasia ? | Hypophosphatasia (HPP) is a genetic condition that causes abnormal development of the bones and teeth. The severity of HPP can vary widely, from fetal death to fractures that don't begin until adulthood. Signs and symptoms may include poor feeding and respiratory problems in infancy; short stature; weak and soft bones;... | Hypophosphatasia |
What are the symptoms of Hypophosphatasia ? | What are the signs and symptoms of Hypophosphatasia? The signs and symptoms of hypophosphatasia vary widely and can appear anywhere from before birth to adulthood. The most severe forms of the disorder tend to occur before birth and in early infancy. Hypophosphatasia weakens and softens the bones, causing skeletal abno... | Hypophosphatasia |
What causes Hypophosphatasia ? | What causes hypophosphatasia? Hypophosphatasia (HPP) is a genetic condition caused by mutations in the ALPL gene. This gene gives the body instructions to make an enzyme called alkaline phosphatase, which is needed for mineralization of the bones and teeth. Mutations in this gene lead to an abnormal version of the enzy... | Hypophosphatasia |
Is Hypophosphatasia inherited ? | How is hypophosphatasia inherited? Perinatal (onset before birth) and infantile hypophosphatasia (HPP) are 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 (ALPL) in each cell. Affected people inherit one mutated copy of the... | Hypophosphatasia |
What are the treatments for Hypophosphatasia ? | How might hypophosphatasia be treated? Until recently, management of hypophosphatasia (HPP) has mostly been aimed at addressing symptoms of the condition. For example: Hydration, restriction of dietary calcium, vitamin D, and sometimes thiazide diuretics for hypercalcemia Ventilatory support for severely affected infan... | Hypophosphatasia |
What are the symptoms of Kapur Toriello syndrome ? | What are the signs and symptoms of Kapur Toriello syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kapur Toriello 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... | Kapur Toriello syndrome |
What are the symptoms of Spinal muscular atrophy with respiratory distress 1 ? | What are the signs and symptoms of Spinal muscular atrophy with respiratory distress 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinal muscular atrophy with respiratory distress 1. If the information is available, the table below includes how often the symptom is seen in peopl... | Spinal muscular atrophy with respiratory distress 1 |
What is (are) Glutaric acidemia type II ? | Glutaric acidemia type II (GA2) is a disorder that interferes with the body's ability to break down proteins and fats to produce energy. The severity of GA2 varies widely among affected individuals. Some have a very severe form which appears in the neonatal period and may be fatal; individuals with this form may be bor... | Glutaric acidemia type II |
What are the symptoms of Glutaric acidemia type II ? | What are the signs and symptoms of Glutaric acidemia type II? Signs and symptoms of glutaric acidemia type II (GA2) can vary widely depending on the age of onset and severity of the condition in each affected individual. In most cases, the condition appears in infancy or early childhood as a sudden episode called a met... | Glutaric acidemia type II |
What are the treatments for Glutaric acidemia type II ? | How might glutaric acidemia type II be treated? The goal of treatment is to prevent long-term problems. However, children who have repeated metabolic crises may develop life-long learning problems. Individuals with glutaric acidemia type II should consult with a metabolic doctor and a dietician who can help to develop ... | Glutaric acidemia type II |
What is (are) Neurofibromatosis type 1 ? | Neurofibromatosis type 1 (NF1) is a rare, inherited condition that is characterized primarily by changes in skin coloring and the development of multiple benign tumors along the nerves of the skin, brain, and other parts of the body. The severity of the condition and the associated signs and symptoms vary significantly... | Neurofibromatosis type 1 |
What are the symptoms of Neurofibromatosis type 1 ? | What are the signs and symptoms of Neurofibromatosis type 1? People affected by neurofibromatosis type 1 (NF1) have an increased risk of developing many different types of tumors (both cancerous and noncancerous). Almost all people with NF1 have neurofibromas, which are benign tumors that can affect nearly any nerve in... | Neurofibromatosis type 1 |
What causes Neurofibromatosis type 1 ? | What causes neurofibromatosis type 1? Neurofibromatosis type 1 is caused by changes (mutations) in the NF1 gene. NF1 is a tumor suppressor gene, which means that it encodes a protein that stops cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in NF1 result in an abnormal protein that is ... | Neurofibromatosis type 1 |
Is Neurofibromatosis type 1 inherited ? | How is neurofibromatosis type 1 inherited? Neurofibromatosis type 1 (NF1) is inherited in an autosomal dominant manner. This means that a person only needs a change (mutation) in one copy of the responsible gene in each cell to have a genetic predisposition to the tumors associated with NF1. In approximately half of ca... | Neurofibromatosis type 1 |
How to diagnose Neurofibromatosis type 1 ? | Is genetic testing available for neurofibromatosis type 1? Although it is usually not necessary for diagnosis, genetic testing is available for NF1, the gene known to cause neurofibromatosis type 1. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is ... | Neurofibromatosis type 1 |
What are the treatments for Neurofibromatosis type 1 ? | How might neurofibromatosis type 1 be treated? The treatment of neurofibromatosis type 1 (NF1) is based on the signs and symptoms present in each person. There is currently no way to prevent or stop the growth of the tumors associated with NF1. Neurofibromas located on or just below the skin that are disfiguring or irr... | Neurofibromatosis type 1 |
What is (are) Lichen sclerosus ? | Lichen sclerosus is a chronic skin disorder that is more common in women, most often affecting the external part of the vagina (vulva) or the area around the anus. In men, it typically affects the tip of the penis. It can occur at any age but is usually seen in women over age 50. Some people have no symptoms, while oth... | Lichen sclerosus |
What are the symptoms of Lichen sclerosus ? | What are the signs and symptoms of Lichen sclerosus? The symptoms are the same in children and adults. Early in the disease, small, subtle white spots appear. These areas are usually slightly shiny and smooth. As time goes on, the spots develop into bigger patches, and the skin surface becomes thinned and crinkled. As ... | Lichen sclerosus |
What causes Lichen sclerosus ? | What causes lichen sclerosus? The underlying cause of lichen sclerosus is not fully understood. The condition may be due to genetic, hormonal, irritant and/or infectious factors (or a combination of these factors). It is believed to relate to an autoimmune process, in which antibodies mistakenly attack a component of t... | Lichen sclerosus |
What are the treatments for Lichen sclerosus ? | How might lichen sclerosus be treated? Strong topical steroid creams or ointments reportedly are very helpful for lichen sclerosus, especially when it affects the genital areas. However, the response to this treatment varies. While itching may be relieved within days, it can take weeks or months for the skin's appearan... | Lichen sclerosus |
What are the symptoms of Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive ? | What are the signs and symptoms of Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive. If the... | Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive |
What are the symptoms of Spastic paraplegia 15 ? | What are the signs and symptoms of Spastic paraplegia 15? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 15. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical D... | Spastic paraplegia 15 |
What are the symptoms of Ossicular Malformations, familial ? | What are the signs and symptoms of Ossicular Malformations, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Ossicular Malformations, familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | Ossicular Malformations, familial |
What are the symptoms of Spinocerebellar ataxia autosomal recessive 8 ? | What are the signs and symptoms of Spinocerebellar ataxia autosomal recessive 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia autosomal recessive 8. If the information is available, the table below includes how often the symptom is seen in people with this co... | Spinocerebellar ataxia autosomal recessive 8 |
What is (are) VIPoma ? | VIPoma is a rare cancer that develops within the pancreas. This tumor causes pancreatic cells to produce high levels of a hormone called vasoactive intestinal peptide (VIP). The signs and symptoms of a VIPoma include abdominal pain, flushing or redness of the face, nausea, watery diarrhea, weight loss, dehydration, and... | VIPoma |
What are the treatments for VIPoma ? | How might VIPoma be treated? Treatment for VIPoma may include intravenous (IV) fluids to correct dehydration, medications such as octreotide to help control diarrhea, and surgery to remove the tumor. If the tumor has spread (metastasized) to the liver or other tissues, treatment may involve chemotherapy, radiofrequency... | VIPoma |
What are the symptoms of Laurin-Sandrow syndrome ? | What are the signs and symptoms of Laurin-Sandrow syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Laurin-Sandrow 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... | Laurin-Sandrow syndrome |
What is (are) Pseudohypoparathyroidism type 1C ? | Pseudohypoparathyroidism type 1C is a genetic disorder that is very similar to hypoparathyroidism (parathyroid hormone levels are too low). However, pseudohypoparathyroidism is caused by no response to parathyroid hormone rather than having too little of the hormone itself. This causes low calcium and high phosphate le... | Pseudohypoparathyroidism type 1C |
What are the symptoms of Pseudohypoparathyroidism type 1C ? | What are the signs and symptoms of Pseudohypoparathyroidism type 1C? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudohypoparathyroidism type 1C. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... | Pseudohypoparathyroidism type 1C |
What is (are) Vohwinkel syndrome ? | Vohwinkel syndrome is an inherited condition that affects the skin. People with the "classic form" generally have honeycomb-patterned calluses on the palms of the hands and the soles of the feet (palmoplantar keratoses); constricting bands of tissue on the fingers and toes which can cause amputation; starfish-shaped, t... | Vohwinkel syndrome |
What are the symptoms of Vohwinkel syndrome ? | What are the signs and symptoms of Vohwinkel syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Vohwinkel 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... | Vohwinkel syndrome |
What is (are) Plasmablastic lymphoma ? | Plasmablastic lymphoma is an aggressive form of non-Hodgkin lymphoma. Although the condition most commonly occurs in the oral cavity, it can be diagnosed in many other parts of the body such as the gastrointestinal tract, lymph nodes, and skin. The exact underlying cause of plasmablastic lymphoma is poorly understood; ... | Plasmablastic lymphoma |
What are the symptoms of Blepharoptosis myopia ectopia lentis ? | What are the signs and symptoms of Blepharoptosis myopia ectopia lentis? The Human Phenotype Ontology provides the following list of signs and symptoms for Blepharoptosis myopia ectopia lentis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | Blepharoptosis myopia ectopia lentis |
What is (are) Familial dermographism ? | Familial dermographism is a condition also known as skin writing. When people who have dermatographia lightly scratch their skin, the scratches redden into a raised wheal similar to hives. Signs and symptoms of dermatographia include raised red lines, swelling, inflammation, hive-like welts and itching. Symptoms usuall... | Familial dermographism |
What are the symptoms of Familial dermographism ? | What are the signs and symptoms of Familial dermographism? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial dermographism. 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... | Familial dermographism |
What are the symptoms of Oculoectodermal syndrome ? | What are the signs and symptoms of Oculoectodermal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculoectodermal 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... | Oculoectodermal syndrome |
What is (are) Adult-onset Still's disease ? | Adult-onset Still's disease is an inflammatory condition characterized by high fevers, rash, sore throat, and joint pain. As it progresses, adult-onset Still's disease may lead to chronic arthritis and other complications. Still's disease was named after an English doctor named George Still, who described the condition... | Adult-onset Still's disease |
What are the symptoms of Adult-onset Still's disease ? | What are the signs and symptoms of Adult-onset Still's disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Adult-onset Still'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 MedlinePl... | Adult-onset Still's disease |
What causes Adult-onset Still's disease ? | What causes adult-onset Still's disease? The cause of adult-onset Stills disease is unknown. Some hypothesize that the condition results from or is triggered by a virus or other infectious agent. Others believe that it is a hypersensitive or autoimmune disorder. To date, no conclusive evidence has been found to prove o... | Adult-onset Still's disease |
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 ... | Menetrier disease |
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... | Menetrier disease |
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... | Menetrier disease |
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... | Menetrier disease |
What is (are) Salivary gland cancer, adult ? | Salivary gland cancer is a rare disease in which cancerous cells form in the tissues of the salivary glands. The salivary glands make saliva and release it into the mouth. Saliva has enzymes that help to digest food and antibodies that help protect against infections of the mouth and throat. There are 3 pairs of major ... | Salivary gland cancer, adult |
What is (are) Myofibrillar myopathy ? | Myofibrillar myopathies (MFM) are a group of neuromuscular disorders characterized by slowly progressive weakness that can involve both proximal muscles (such as hips and shoulders) and distal muscles (those farther away from the trunk). Some affected individuals also experience sensory symptoms, muscle stiffness, achi... | Myofibrillar myopathy |
What are the symptoms of Myofibrillar myopathy ? | What are the signs and symptoms of Myofibrillar myopathy? Myofibrillar myopathy (MFM) primarily affects skeletal muscles, which are muscles that the body uses for movement. In some cases, the heart (cardiac) muscle is also affected. The signs and symptoms of MFM vary widely among affected individuals, typically dependi... | Myofibrillar myopathy |
What are the symptoms of Hypertrichosis lanuginosa, acquired ? | What are the signs and symptoms of Hypertrichosis lanuginosa, acquired? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertrichosis lanuginosa, acquired. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | Hypertrichosis lanuginosa, acquired |
What are the symptoms of Kohlschutter Tonz syndrome ? | What are the signs and symptoms of Kohlschutter Tonz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kohlschutter Tonz 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... | Kohlschutter Tonz syndrome |
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