Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD)

Definition:

Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) is an X-linked dominant, male-lethal trait with a lateralized inflammatory nevus and body hypoplasia. Loss of function of NSDHL, an enzyme involved in cholesterol biosynthesis leads to the condition.

References:

[1]. C A Kim, et al. CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL gene. Dermatology. 2005;211(2):155-8. [Content Brief]

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