CHILD Syndrome

Last Updated: 2019-08-27

Author(s): Anzengruber F., Navarini A.

ICD11: -

Happle 1980

Genetic Dysplasia Syndrome. CHILD stands for Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects).

Only female children are affected, as male embryos die prematurely.

X-chromosomal dominant inheritance of the gene NSDHL, which codes for NAD(P)H steroid dehydrogenase-like protein. This leads to an enzyme defect in the cholesterol metabolism. 

Strictly ipsilateral ichthyosiform, scaly skin changes. There may also be (ipsilateral) abnormalities in other organs (heart, lungs, kidney, brain).

Medical history


Genetic analysis, if necessary

  1. Noguera-Morel L, Hernández-Ostiz S, Casas-Fernández L, Hernández-Martín A, Rodríguez-Blanco I, Requena L, Hotz A, Fischer J, Torrelo A. CHILD syndrome with minimal limb abnormalities. J Eur Acad Dermatol Venereol. 2016 Dec;30(12):e201-e202.