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

Abstract

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