What is the Cause of Aarskog–Scott Syndrome?
Mutations in the "faciogenital dysplasia" (FGD1) gene are responsible for Aarskog–Scott syndrome. The syndrome is rare.
Aarskog–Scott syndrome is a genetic disorder that mainly affects males. Females may have a milder form of the disease. Changes (mutations) in the "faciogenital dysplasia" (FGD1) gene are responsible for the syndrome. The disease is transmitted in an X-linked recessive manner. This is a hereditary pattern in which a recessive gene on the X chromosome results in disease manifestations in male offspring. A trait is said to be recessive when it becomes clinically apparent only when an individual carries two copies of its gene (unlike a dominant trait which get expressed even if a single copy of the gene is present). The female offspring has 2 X chromosomes, out of which one is often normal; this female will only be a carrier, i.e. she does not clinically have the disease but her sons will have a 50% risk of being affected.
Incidence and Prevalence
The syndrome is rare; the exact prevalence is unknown. Mildly affected people are often not diagnosed.
Aarskog–Scott syndrome is an inherited disorder that runs in families. Specific risk factors have not been listed.
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- Scott CI (1971). "Unusual facies, joint hypermobility, genital anomaly and short stature: a new dysmorphic syndrome". Birth Defects Orig. Artic. Ser. 7 (6): 240–6.
- Orrico A, Galli L, Buoni S, Hayek G, Luchetti A, Lorenzini S, Zappella M, Pomponi MG, Sorrentino V. Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q). Am J Med Genet A. 2005 May 15;135(1):99-102.
- A.D.A.M, U.S. National Library of Medicine, Wikepedia