Faciodigitogenital dysplasia
This disorder is characterized by multiple birth defects involving the face, fingers and genitalia. Features include 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. This condition is inherited. There are X-linked and autosomal (non-X-linked) forms of the disease. It is also called the Aarskog-Scott syndrome for DJ Aarskog (1928-) and CI Scott, Jr. (1934-), Norwegian and American pediatricians, respectively, who described it in 1970-71. The gene for the X-linked form of the disease has been mapped to chromosome band Xp11.21.
Medical dictionary.
2011.