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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.
Aarskog-Scott syndrome is a genetic disorder that affects the development of many parts of the body. This condition mainly affects males, although females may ...
Aarskog-Scott syndrome symptoms, causes, diagnosis, and treatment information for Aarskog-Scott syndrome (Aarskog Syndrome) with alternative diagnoses, full ...
Aarskog-Scott syndrome: A syndrome of wide spaced eyes (ocular hypertelorism), front-facing (anteverted) nostrils, a broad upper lip, a malformed ("saddle-bag") scrotum ...
is an inherited disease characterized by short stature, facial abnormalities, skeletal and genital anomalies. The Aarskog-Scott syndrome (AAS) is also known as the ...
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