CHILD syndrome(redirected from Congenital Hemidysplasia-Ichthyosiform erythroderma-Limb Deformity)
Acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects.
Synonym(s): CHILD syndrome
Farlex Partner Medical Dictionary © Farlex 2012
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.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
CHILD syndromeAn 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
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.