CHILD syndrome caused by deficiency of 3β-hydroxysteroid-Δ8, Δ7- isomerase

Dorothy K. Grange, Lisa E. Kratz, Nancy E. Braverman, Richard I. Kelley

Research output: Contribution to journalArticlepeer-review

92 Scopus citations


CHILD (congenital hemidysplasia, ichthyosis, and limb defects) syndrome is a rare, usually sporadic disorder associated with unilateral distribution of ichthyosiform skin lesions, limb defects, punctate calcifications of cartilaginous structures, and visceral anomalies. CHILD syndrome shares some manifestations with X-linked dominant Conradi-Hunermann syndrome (CDPX2), although the skeletal defects and skin lesions in CDPX2 are bilateral and asymmetric. Because CDPX2 patients have abnormal 8-dehydrosterol metabolism caused by mutations in 3β-hydroxysteroid-Δ87-isomerase, we measured plasma sterols in a patient with CHILD syndrome and found levels of 8- dehydrocholesterol and 8(9)-cholestenol increased to the same degree as in CDPX2 patients. Subsequently, we identified a nonsense mutation in exon 3 of the patient's 3β-hydroxysteroid-Δ87-isomerase gene. We speculate that at least some cases of CHILD syndrome are allelic with CDPX2 caused by 3β- hydroxysteroid-Δ87-isomerase deficiency. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish (US)
Pages (from-to)328-335
Number of pages8
JournalAmerican journal of medical genetics
Issue number4
StatePublished - 2000


  • 3β-hydroxysteroid-Δ,Δ-isomerase
  • CHILD syndrome
  • Chondrodysplasia punctata
  • Hemidysplasia
  • Ichthyosiform erythroderma
  • Sterol metabolism

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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