Genetic Disorders
A genetic disorder means that a baby is born with abnormal genes that have been passed down through the family or caused by environmental factors such as cigarette smoke.
Disorders can range from very minor mutations that cause no symptoms to very serious illnesses such as cystic fibrosis and cancer.
If you have a genetic defect that runs in your family, ask your doctor about genetic screening and counseling before you become pregnant.
Recently Answered
- Q What is Hallermann-Streiff syndrome (HSS)?
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HSS was first described in the medical literature in 1893. It was first reported by Hallermann in 1948 and by Streiff in 1950, when they observed patients with certain distinctive characteristics, including a birdlike face, in which the nose appears... Full Answer
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- Q How is Gorlin-Chaudhry-Moss syndrome treated?
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There is currently no known cure for Gorlin-Chaudhry-Moss (GCM) syndrome. Instead, treatment aims to reduce symptoms and prevent complications.Corrective lenses: Individuals with GCM who have vision problems may benefit from corrective lenses or glasses.... Full Answer
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- Q How is Gorlin-Chaudhry-Moss syndrome diagnosed?
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General: Gorlin-Chaudhry-Moss (GCM) syndrome may be suspected based on the observation of the condition's distinctive features of the head, face, hair, and eyes. Specifically, GCM is characterized by premature closure of the fibrous joints (sutures)... Full Answer
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- Q What are the symptoms of GAPO syndrome?
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General: As in most ectodermal dysplasias, the eyes, hair, and teeth are affected in patients with growth retardation-alopecia-pseudoanodontia-optic atrophy (GAPO) syndrome. While the most common symptoms are hair loss, dental and eye problems, and... Full Answer
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- Q What is GAPO syndrome?
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Growth retardation-alopecia-pseudoanodontia-optic atrophy (GAPO) syndrome is a form of ectodermal dysplasia, one of a group of syndromes deriving from abnormalities of the ectodermal structures, which include the hair, teeth, nails, sweat glands,... Full Answer
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- Q How is focal dermal hypoplasia treated?
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General: There is no known cure for focal dermal hypoplasia (FDH). Instead, treatment aims to reduce symptoms and prevent or treat complications. Patients with FDH should be regularly seen by a pediatrician, dermatologist, audiologist, ophthalmologist,... Full Answer
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- Q How is focal dermal hypoplasia diagnosed?
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General: Focal dermal hypoplasia (FDH) may be diagnosed following a thorough family history and complete physical exam. FDH may be suspected based on observation of the distinctive physical characteristics associated with the condition, specifically,... Full Answer
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- Q What are the symptoms of focal dermal hypoplasia (FDH)?
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Bone: People with FDH may have skeletal abnormalities, including problems with the fingers and toes. For example, fingers and toes may be fused or abnormally curved sideways, or there may be missing or extra fingers and toes. Other patients may have... Full Answer
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- Q How can hyperhomocysteinemia be prevented?
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Prevention strategies focus on dietary and lifestyle modifications. A healthy diet includes at least five daily servings of fruits and vegetables; consuming foods rich in fiber, whole grains, calcium, omega-3 fatty acids; and reducing intake of... Full Answer
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- Q How is hyperhomocysteinemia treated?
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Betaine anhydrous: Dietary betaine intake is about 0.5-2.0 grams daily. Higher betaine intake is associated with reduced levels of plasma homocysteine, and betaine supplementation is a standard treatment for hyperhomocysteinemia. Overall, betaine... Full Answer
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