Summary
CHILD (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects) syndrome is a rare multisystem birth defect characterized by unilateral erythema and scaling, with a distinct demarcation in the middle of the trunk. The dermatosis is either present at birth or develops during the first weeks of life. Ipsilateral limb defects can vary from hypoplasia of some fingers to complete absence of an extremity. Ipsilateral hypoplasia of other parts of the skeleton, as well as defects of the brain and the viscera may be found. CHILD syndrome is an X-linked dominant, male-lethal trait caused by mutations in the NSDHL gene (NAD(P)H steroid dehydrogenase-like protein) localized to Xq28 and involved in cholesterol metabolism. No specific treatment is available. The goal of therapies is to reduce morbidity and to prevent complications. *Author: Dr R. Fink-Puches (May 2004)*.
