Smith-Lemli-Opitz Syndrome

**Definition:** An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY.

**Tree numbers:** - C16.131.077.860 - C16.320.565.398.850 - C16.320.565.925.875 - C18.452.584.500.937 - C18.452.584.563.850 - C18.452.648.398.850 - C18.452.648.925.875

**Synonyms:** - RSH-SLO Syndrome - Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung - Hyperotosis Corticalis Generalisata Familiaris - RSH Syndrome - SLO Syndrome