CHILD syndrome

(redirected from Congenital Hemidysplasia-Ichthyosiform erythroderma-Limb Deformity)

CHILD

Acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects.
Synonym(s): CHILD syndrome

CHILD syndrome

Congenital Hemidysplasia-Ichthyosiform erythroderma-Limb Deformity syndrome. An X-linked MIM 308050 congenital condition that is fatal in males; male:female ratio, 19:1.
 
Clinical findings
Unilateral ichthyosis and limb malformation, accompanied by ipsilateral hypoplasia of paired organs (e.g., lung, thyroid, psoas muscle), CNS and cranial nerves.

Molecular pathology
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.

CHILD syndrome

An X-linked congenital lethal complex that is fatal in ♂–♂:♀ ratio, 19:1 Clinical Unilateral ichthyosis, limb malformation, accompanied by ipsilateral hypoplasia of paired organs–eg, lung, thyroid, psoas muscle, CNS, and cranial nerves
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