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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.




This term was added to the dictionary on Thursday 05 November, 2009
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