National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Aarskog syndrome

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I have read that Aarskog syndrome is only expressed in boys and that girls are  carriers. Is this true? 
Aarskog syndrome mainly affects males, although females may have mild features of the syndrome. Females who carry one altered copy of the FGD1 gene may show signs such as hypertelorism (widely spaced eyes), short stature, or a widow's peak hairline.[1]
Last updated: 9/7/2011

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  1. Aarskog-Scott syndrome. Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition/aarskog-scott-syndrome. Accessed 9/7/2011.