Smith-Lemli-Opitz Syndrome

Synonyms

7-Dehydrocholesterol Reductase Deficiencies

7-Dehydrocholesterol Reductase Deficiency

Acrodysgenital Syndrome, Lethal

Acrodysgenital Syndromes, Lethal

Deficiencies, 7-Dehydrocholesterol Reductase

Deficiency, 7-Dehydrocholesterol Reductase

Hyperotosis Corticalis Generalisata Familiaris

Lethal Acrodysgenital Syndrome

Lethal Acrodysgenital Syndromes

Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung

RSH SLO Syndrome

RSH Syndrome

RSH Syndromes

RSH-SLO Syndrome

RSH-SLO Syndromes

Reductase Deficiencies, 7-Dehydrocholesterol

Reductase Deficiency, 7-Dehydrocholesterol

Rutledge Friedman Harrod Syndrome

Rutledge Lethal Multiple Congenital Anomaly Syndrome

SLO Syndrome

SLO Syndromes

Smith Lemli Opitz Syndrome

Smith Lemli Opitz Syndrome, Type 2

Smith Lemli Opitz Syndrome, Type I

Smith Lemli Opitz Syndrome, Type II

Smith Lemli Opitz syndrome, type 1

Smith-Lemli-Opitz Syndrome, Type 1

Smith-Lemli-Opitz Syndrome, Type 2

Smith-Lemli-Opitz Syndrome, Type I

Smith-Lemli-Opitz Syndrome, Type II

Syndrome, Lethal Acrodysgenital

Syndrome, RSH

Syndrome, SLO

Syndromes, RSH

Syndromes, SLO

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.