Definition of Aarskog-Scott syndrome

Aarskog-Scott syndrome: A syndrome of wide spaced eyes (ocular hypertelorism), front-facing (anteverted) nostrils, a broad upper lip, a malformed ("saddle-bag") scrotum, and laxity of the ligaments resulting in bending back of the knees (genu recurvatum), flat feet, and overly extensible fingers. There are X-linked and autosomal forms of the disease. The gene for the X-linked form has been mapped to chromosome band Xp11.21 and identified as the FGD1 gene.

The disease is named for DJ Aarskog (1928-) and CI Scott, Jr. (1934-), Norwegian and American pediatricians, who described it in 1970 and 1971. It is also known as Aarskog syndrome, faciodigitogenital dysplasia, and faciogenital dysplasia.


Last Editorial Review: 6/14/2012

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