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CHILD syndrome
Other Resources UpToDate PubMed

CHILD syndrome

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

Synopsis

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.

For more information, see OMIM.

Codes

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

SNOMEDCT:
17608003 – Child syndrome

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Last Reviewed: 05/26/2020
Last Updated: 07/10/2020
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