What is the Cause of Aarskog–Scott Syndrome?
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.