a syndrome of ocular hypertelorism, anteverted nostrils, broad upper lip, saddle-bag or shawl scrotum, protruding umbilicus, and laxity of ligaments resulting in genu recurvatum, flat feet, and hyperextensible fingers; the X-linked form [MIM*305400] is caused by mutation in the FGD1 gene on Xp; autosomal dominant [MIM*100050] and recessive [MIM*227330] forms also exist.
Synonym(s): Aarskog-Scott syndrome
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Aarskog,Dagfinn, Norwegian pediatrician, 1928–.
Aarskog-Scott syndrome - Synonym(s): faciodigitogenital dysplasia
Medical Eponyms © Farlex 2012