Contents

SynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferences

View all Images (16)

CHILD syndrome
Print Captions
Other Resources UpToDate PubMed

CHILD syndrome

Print Images (16)
Contributors: Nnenna Agim MD, Shauna Goldman MD, Craig N. Burkhart MD, Dean Morrell MD, Susan Burgin MD
Other Resources UpToDate PubMed

Alerts and Notices

Synopsis

CHILD syndrome : Limb hypoplasia, Present at birth, Unilateral distribution, Ichthyotic scaly plaques
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome is a rare, X-linked dominant disorder caused by loss of function mutations in the NSDHL gene, which encodes NAD(P)H sterol dehydrogenase-like protein. These mutations result in disruptions of the distal cholesterol biosynthetic pathway with accumulation of toxic metabolic intermediates. The syndrome typically presents in female infants at birth or within the first few months of life. A male infant presumed to have postzygotic mutations has been reported. The hallmark of this condition is the presence of strikingly unilateral ichthyosiform plaques with a sharp midline demarcation in association with ipsilateral defects of other organ systems. These can include the musculoskeletal, cardiovascular, pulmonary, renal, genitourinary, endocrine, and central nervous systems.

Codes

ICD10CM:
Q87.89 – Other specified congenital malformation syndromes, not elsewhere classified

SNOMEDCT:
17608003 – Child syndrome

Look For

Subscription Required

Diagnostic Pearls

Subscription Required

Differential Diagnosis & Pitfalls

Best Tests

Subscription Required

Management Pearls

Subscription Required

Therapy

Subscription Required

References

Subscription Required

Last Reviewed:05/25/2020
Last Updated:01/12/2022
Copyright © 2023 VisualDx®. All rights reserved.
CHILD syndrome
Captions Print   Filter Images View all Images (16)
(with subscription) Reset
A medical illustration showing key findings of CHILD syndrome : Limb hypoplasia, Present at birth, Unilateral distribution, Ichthyotic scaly plaques
Clinical image of CHILD syndrome - imageId=1403292. Click to open in gallery. caption: 'Diffuse hyperkeratotic, pink plaques involving the left arm and leg and the left side of the trunk with a sharp midline cutoff. Note similar scant plaques with a blaschkoid configuration on the right side.'
Diffuse hyperkeratotic, pink plaques involving the left arm and leg and the left side of the trunk with a sharp midline cutoff. Note similar scant plaques with a blaschkoid configuration on the right side.

+14 More images of CHILD syndrome with subscription

Copyright © 2023 VisualDx®. All rights reserved.