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Acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects.
Synonym(s): CHILD syndrome
CHILD syndromeCongenital Hemidysplasia-Ichthyosiform erythroderma-Limb Deformity syndrome. An X-linked MIM 308050 congenital condition that is fatal in males; male:female ratio, 19:1.
Unilateral ichthyosis and limb malformation, accompanied by ipsilateral hypoplasia of paired organs (e.g., lung, thyroid, psoas muscle), CNS and cranial nerves.
CHILD is associated with a mutation of NSDHL on chromosome Xq28, which encodes a protein that localises to the endoplasmic reticulum and is involved in cholesterol biosynthesis.