Smith-Lemli-Opitz syndrome(English)

• metabolic and malformation disorder caused by gene mutations leading to microcephaly and hypogenitalism, where key features include toe syndactyly and facial dysmorphisms as, for example, anteverted nares. The characteristic craniofacial appearance is independent from the clinical or biochemical severity. There is a less-expressed form (named type I), and the more severe type II form, where the difference can be explained as a consequence of the underlying mutations
• Congenital disorders, Metabolism
• https://databas…red/genes/DHCR7
• https://doi.org…38/ejhg.2014.87