Cholesterol precursors and facial clefting
Forbes D. Porter
Forbes D. Porter
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Commentary

Cholesterol precursors and facial clefting

Abstract

Inborn errors of cholesterol synthesis cause human malformation syndromes, including Smith-Lemli-Opitz syndrome, lathosterolosis, desmosterolosis, X-linked dominant chondrodysplasia punctata type 2, and congenital hemidysplasia with ichthyosiform erythroderma and limb defects. Because adequate cholesterol is not transported across the placenta, low cholesterol and elevated sterol precursor levels are present during embryogenesis. It has been debated whether the malformations result from low cholesterol or the buildup of sterol precursors. In this issue of the JCI, Engelking et al. provide evidence that sterol precursor accumulation plays a pivotal role in the genesis of facial malformations (see the related article beginning on page 2356).

Authors

Forbes D. Porter

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Figure 1

SLOS phenotype.

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SLOS phenotype. Typical facial features of a SLOS patient as an infant (...
Typical facial features of a SLOS patient as an infant (A) and young child (B). Cutaneous syndactyly of the second and third toes (C) is the most frequently reported finding in SLOS. Hand anomalies (D and E) may include single palmar creases, short thumbs, and postaxial polydactyly. Some degree of cleft palate (F) is observed in approximately half of the patients.