CHILD

CHILD2016-11-25T08:31:43+00:00

CHILD

GENETICS, PAEDIATRICS

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 

References http://www.uniprot.org/uniprot/Q15738

http://www.omim.org/entry/308050         

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