Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2023 Feb 19;11(2):e6920.
doi: 10.1002/ccr3.6920. eCollection 2023 Feb.

Keeping you on your toes: Smith-Lemli-Opitz Syndrome is an easily missed cause of developmental delays

Simone Coupe  1 , Ashley Hertzog  1   2 , Carolyn Foran  1 , Adviye Ayper Tolun  1   2 , Megan Suthern  3   4 , Clara W T Chung  5   6 , Carolyn Ellaway  2   7
Affiliations
Case Reports

Keeping you on your toes: Smith-Lemli-Opitz Syndrome is an easily missed cause of developmental delays

Simone Coupe et al. Clin Case Rep. .

Abstract

Smith-Lemli-Opitz syndrome (SLOS) is a relatively common genetic cause of developmental delay and may only present in conjunction with 2,3 toe syndactyly. This case series illustrates a milder phenotype of SLOS, where the predominant findings are neurocognitive in the presence of 2,3 toe syndactyly.

Keywords: 7‐Dehydrocholesterol; biochemical genetics; diagnosis; metabolism; smith–lemli–opitz syndrome.

PubMed Disclaimer

Conflict of interest statement

No authors have any conflicts of interest to disclose.

Figures

FIGURE 1
FIGURE 1
Phenotypic features, including distinctive facial findings, in Smith–Lemli–Opitz syndrome: (1A) Case 1 with anteverted nares and a tented upper lip, (1B) Case 1 with 2,3 toe syndactyly, (1C) Case 2 with ptosis, long philtrum, and low set ears
FIGURE 2
FIGURE 2
Familial pedigree depicting autosomal recessive inheritance of the DHCR7 variants. Case 1 and Case 2 (both with clinical and biochemical features consistent with SLOS) inherited an affected allele from each parent. *Genotype assumed, but not molecularly confirmed
See this image and copyright information in PMC

References

    1. Bianconi SE, Cross JL, Wassif CA, Porter FD. Pathogenesis, epidemiology, diagnosis and clinical aspects of smith–Lemli–Opitz syndrome. Expert Opin Orphan Drugs. 2015;3(3):267‐280. - PMC - PubMed
    1. Nowaczyk MJM, Zeesman S, Waye JS, Douketis JD. Incidence of smith‐Lemli‐Opitz syndrome in Canada: results of three‐year population surveillance. J Pediatr. 2004;145(4):530‐535. - PubMed
    1. Lazarin GA, Haque IS, Evans EA, Goldberg JD. Smith‐Lemli‐Opitz syndrome carrier frequency and estimates of in utero mortality rates: smith‐Lemli‐Opitz syndrome frequency. Prenat Diagn. 2017;37(4):350‐355. - PMC - PubMed
    1. Kelley RI, Herman GE. Inborn errors of sterol biosynthesis. Annu Rev Genomics Hum Genet. 2001;2(1):299‐341. - PubMed
    1. Langius FAA, Waterham HR, Romeijn GJ, et al. Identification of three patients with a very mild form of smith‐Lemli‐Opitz syndrome. Am J Med Genet A. 2003;122A(1):24‐29. - PubMed

Publication types

LinkOut - more resources