Show pageExport to PDFBack to top This page is read only. You can view the source, but not change it. Ask your administrator if you think this is wrong. ====== Smith-Lemli-Optiz Syndrome ====== ==== Characteristics ==== * distinctive facial features * microcephaly with bitemporal narrowing, a short upturned nose with anteverted nares, unilateral or bilateral ptosis, epicanthus, and retrognathia {{::smith_lemli_optiz.png?600|}} See Reference 1 below * microcephaly * intellectual disability or learning problems * behavioral problems * autism * Feeding difficulties and growth delay * Malformations * heart * lungs * kidneys * gastrointestinal tract * genitals * polydactyly * syndactyly ==== Ocular Abnormalities ==== * Cataract (congenital or acquired) * Strabismus * Demylenation of optic nerves * Sclerosis of lateral geniculate bodes * Opsoclonus * Poor visual following behavior ====Etiology==== * [[https://ghr.nlm.nih.gov/gene/DHCR7|DHCR7]] gene mutations * Inherited in an autosomal recessive pattern. ====References==== - [[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4343216/#!po=0.505051 | Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome]]\\ - [[http://ghr.nlm.nih.gov/condition/smith-lemli-opitz-syndrome|NLM Link]]\\ {{tag>syndrome}} syndrome