Last update 19 Sep 2024

Smith-Lemli-Opitz Syndrome

Basic Info

Synonyms
7-Dehydrocholesterol reductase deficiency, 7-dehydrocholesterol reductase deficiency, Acrodysgenital Syndrome, Lethal
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Introduction
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.

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