What is the Cause of Aarskog–Scott Syndrome?

dr. simi paknikar
Medically Reviewed by dr. simi paknikar, MD
Last Updated on Oct 09, 2014
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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.

Genetics

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.

Risk factors

Aarskog–Scott syndrome is an inherited disorder that runs in families. Specific risk factors have not been listed.

References:

  1. Aarskog D (1970). "A familial syndrome of short stature associated with facial dysplasia and genital anomalies". J. Pediatr. 77 (5): 856–61
  2. 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.
  3. 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.
  4. A.D.A.M, U.S. National Library of Medicine, Wikepedia

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