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Pathway Description
CHILD Syndrome
Homo sapiens
Disease Pathway
Created: 2013-08-01
Last Updated: 2022-11-09
CHILD Syndrome, (Congenital Hemidysplasia with Icthyosiform Erythroderma and Limb Defects; Ichthyosiform Eruthroderma, Unilateral, with Epsilateral Malformations, Especially Absence Deformity of Limbs) is caused by a mutation in the gene encoding NADH steroid dehydrogenase-like protein (NSDHL). A defect in sterol-4 alpha-carboxylate 3-dehydrogenase, which normally catalyzes the reaction 3-beta-hydroxy-4-beta-methyl-5-alpha-cholest-7-ene-4-alpha-carboxylate + NAD+ = 4-alpha-methyl-5-alpha-cholest-7-en-3-one + CO2 + NADH, causes accumulation of 8(9)cholestenol and 8-dehydrocholesterol in plasma. Symptoms of CHILD syndrome include hearing defects, hemidysplasia, unilateral hypomelia, ichthyosiform nevi, limb abnormalities, lung hypoplasia, and punctate calcifications.
References
CHILD Syndrome References
[OMIM: Entry 308050](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308050)
[Metagene: mp=CHILD SYNDROME](http://www.metagene.de/program/d.prg?mp=CHILD%20SYNDROME)
Grange DK, Kratz LE, Braverman NE, Kelley RI: CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase. Am J Med Genet. 2000 Feb 14;90(4):328-35.
Pubmed: 10710233
Happle R, Effendy I, Megahed M, Orlow SJ, Kuster W: CHILD syndrome in a boy. Am J Med Genet. 1996 Mar 15;62(2):192-4. doi: 10.1002/(SICI)1096-8628(19960315)62:2<192::AID-AJMG14>3.0.CO;2-J.
Pubmed: 8882402
Hebert AA, Esterly NB, Holbrook KA, Hall JC: The CHILD syndrome. Histologic and ultrastructural studies. Arch Dermatol. 1987 Apr;123(4):503-9.
Pubmed: 3827283
Ramphul K, Mejias SG: Child Syndrome
Pubmed: 29939590
Konig A, Happle R, Bornholdt D, Engel H, Grzeschik KH: Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. Am J Med Genet. 2000 Feb 14;90(4):339-46.
Pubmed: 10710235
Steroid Biosynthesis References
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Pubmed: 7911016
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Pubmed: 14702039
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Pubmed: 14574404
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Pubmed: 1358203
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Pubmed: 7913309
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Pubmed: 11313768
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Pubmed: 14730012
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Pubmed: 10369261
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Pubmed: 8663599
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Pubmed: 15489334
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Pubmed: 10191291
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Pubmed: 9392419
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