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Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue. [ 6 ] [ 7 ] [ 1 ] Those with the condition tend to be tall and thin, with long arms, legs , fingers, and toes . [ 1 ]
XYY syndrome, also known as Jacobs syndrome, is an aneuploid genetic condition in which a male has an extra Y chromosome. [1] There are usually few symptoms. [2] These may include being taller than average and an increased risk of learning disabilities. [1] [2] The person is generally otherwise normal, including typical rates of fertility. [1]
Marfan syndrome - inherited as an autosomal dominant characteristic, due to mutations in the FBN1 gene that encodes fibrillin 1. [3] Homocystinuria - condition of methionine metabolism brought on by a cystathionine β-synthase deficit that causes a build-up of homocysteine and its metabolites in the urine and blood. [4]
A genetic disorder is a health problem caused by one or more abnormalities in ... neurofibromatosis type 2, Marfan syndrome, hereditary nonpolyposis colorectal ...
This feature can occur on its own with no underlying health problems, or it can be associated with certain medical conditions, including Marfan syndrome, [1] Ehlers–Danlos syndromes, [2] Loeys–Dietz syndrome, and homocystinuria. [3]
The suit states that Orsini had Marfan syndrome, an inherited connective-tissue disorder that left him with an enlarged aorta. Orsini had received an aortic valve replacement and had been ...
An aortic aneurysm increases risk of dissection, as do family history and certain genetic syndromes. Triggers. Injury to the chest, extreme strain on the body, drug use and high blood pressure can ...
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.