An X-linked recessive condition (OMIM:308050) characterised by mental retardation, Congenital Hemidysplasia with Ichythyosiform erythrodema and Limb Defects (CHILD). The mutations are lethal in hemizygous males; male:female ratio, 19:1
Clinical findings Unilateral ichthyosis, limb malformation, accompanied by ipsilateral hypoplasia of paired organs–e.g., lung, thyroid, psoas muscle, CNS, and cranial nerves
Molecular pathology Defects of NSDHL, which encodes a protein that localises to the endoplasmic reticulum and is involved in cholesterol biosynthesis, cause CHILD.
Abbreviation for Congenital Hemidysplasia-Ichthyosiform erythroderma-Limb Deformity, also known as ichthyosiform erythroderma—unilateral—with ipsilateral malformations—especially absence deformity of limbs