Skip to Content

faciodigitogenital dysplasia

 

Definition: 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

Disclaimer: This site is designed to offer information for general educational purposes only. The health information furnished on this site and the interactive responses are not intended to be professional advice and are not intended to replace personal consultation with a qualified physician, pharmacist, or other healthcare professional. You must always seek the advice of a professional for questions related to a disease, disease symptoms, and appropriate therapeutic treatments.
© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
Hide