CHILD syndrome
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Related to CHILD syndrome: battered child syndrome, Only child syndrome
CHILD
Acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects.
Synonym(s): CHILD syndrome
Farlex Partner Medical Dictionary © Farlex 2012
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.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
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 nervesMcGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.