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Don’t fight Aarskog syndrome alone.
Find your community on the free RareGuru App.Aarskog syndrome is an inherited disease that affects a person's height, muscles, skeleton, genitals, and appearance of the face. Intellectual development may also be affected. About 20 percent of people with Aarskog- Scott syndrome have mutations in the FGD1 gene. The cause in other affected individuals is unknown. The condition is inherited in an X-linked recessive pattern.
Source: GARD Last updated on 05-01-20
80%-99% of people have these symptoms.
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30%-79% of people have these symptoms.
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5%-29% of people have these symptoms.
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1%-4% of people have these symptoms.
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An unknown % of people have these symptoms.
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Aarskog syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause Aarskog syndrome. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. X-linked recessive conditions are unique in that fathers cannot pass X-linked traits to their sons and all daughters of an affected male will be carriers.
Last updated on 05-01-20
Aarskog syndrome mainly affects males, although females may have mild features of the syndrome. Females who carry one altered copy of the FGD1 gene may show signs such as hypertelorism (widely spaced eyes), short stature, or a widow's peak hairline.
Last updated on 05-01-20
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