CHILD Syndrome


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.

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References

  1. OMIM: Entry 308050
  2. Metagene: mp=CHILD SYNDROME
  3. 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
  4. 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. Pubmed
  5. Hebert AA, Esterly NB, Holbrook KA, Hall JC: The CHILD syndrome. Histologic and ultrastructural studies. Arch Dermatol. 1987 Apr;123(4):503-9. Pubmed