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Aarskog-Scott syndrome

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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.</P> 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.

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