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The Smith-Lemli-Opitz syndrome

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Kelley, Richard I, Hennekam, Raoul C M·2000·Journal of Medical Genetics
DOI 10.1136/jmg.37.5.321PMC PMC1734573
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Abstract

The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital malformation syndromes. The recent discovery of the biochemical cause of SLOS and the subsequent redefinition of SLOS as an inborn error of cholesterol metabolism have led to important new treatment possibilities for affected patients. Moreover, the recent recognition of the important role of cholesterol in vertebrate embryogenesis, especially with regard to the hedgehog embryonic signalling pathway and its effects on the expression of homeobox genes, has provided an explanation for the abnormal morphogenesis in the syndrome. The well known role of cholesterol in the formation of steroid hormones has also provided a possible explanation for the abnormal behavioural characteristics of SLOS.

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  • The occipital frontal head circumference is proportionately the smallest measurement at birth and is 2 standard deviations below the typical population.

    “the occipital frontal head circumference (OFC) is proportionately the smallest measurement at birth and is 2 standard deviations (SD) below the typical population [50, 51].”

    From Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits (2021) · cites this paper as [50]

    The Natural history section says head circumference is proportionately the smallest measurement at birth. It does not give a birth head-circumference value of exactly 2 SD below normal: it gives a range of −1 to −5 SD for most measurements in classical SLOS and a separate adult range. (LLM, conf=0.90)

    Experimental — accuracy not yet measured

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Cites

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Cited by

Sorted by citations

Authors
Kelley, R. I., & Hennekam, R. C. M.
Affiliations
Kennedy Krieger Institute (US)
Corresponding author
Kelley, Richard I
ORCID
Venue
Journal of Medical Genetics
Publisher
BMJ
Published
2000-05-01
Volume
37
Issue
5
Pages
321-335
ISSN
  • 0022-2593 (ISSN-L)
  • 1468-6244
DOI
10.1136/jmg.37.5.321
PMC
PMC1734573
OpenAlex
W2143076431
Cited by
480
References
6
Citations by year
2026: 4 · 2025: 10 · 2024: 14 · 2023: 13 · 2022: 12 · 2021: 13 · 2020: 10 · 2019: 17 · 2018: 10 · 2017: 17 · 2016: 22 · 2015: 11 · 2014: 23 · 2013: 24 · 2012: 27
FWCI
4.97
Type
journal article
Language
en
Open access
Locations
  • Journal of Medical Genetics (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
  • UvA-DARE (University of Amsterdam) (submittedVersion)
  • Data Archiving and Networked Services (DANS) (submittedVersion)
  • Pure Amsterdam UMC (submittedVersion)
  • Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
  • Health Sciences › Medicine › Surgery › Cholesterol and Lipid Metabolism
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
Keywords
Smith-Lemli-Opitz syndrome, cholesterol metabolism, multiple congenital anomalies, embryonic development, Hedgehog signaling, homeobox genes, steroidogenesis, behavioural abnormalities
MeSH terms
Cholesterol, Humans, Oxidoreductases, Smith-Lemli-Opitz Syndrome, Oxidoreductases Acting on CH-CH Group Donors

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