Smith-Lemli-Opitz Syndrome
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.
Year introduced: 1996
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Tree Number(s): 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
MeSH Unique ID: D019082
Entry Terms:
- Smith Lemli Opitz Syndrome
- SLO Syndrome
- SLO Syndromes
- Syndrome, SLO
- Syndromes, SLO
- Hyperotosis Corticalis Generalisata Familiaris
- RSH Syndrome
- RSH Syndromes
- Syndrome, RSH
- Syndromes, RSH
- RSH-SLO Syndrome
- RSH SLO Syndrome
- RSH-SLO Syndromes
- Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung
- Smith-Lemli-Opitz Syndrome, Type II
- Smith Lemli Opitz Syndrome, Type II
- Rutledge Lethal Multiple Congenital Anomaly Syndrome
- Rutledge Friedman Harrod Syndrome
- Smith-Lemli-Opitz Syndrome, Type 2
- Smith Lemli Opitz Syndrome, Type 2
- Lethal Acrodysgenital Syndrome
- Acrodysgenital Syndrome, Lethal
- Acrodysgenital Syndromes, Lethal
- Lethal Acrodysgenital Syndromes
- Syndrome, Lethal Acrodysgenital
- 7-Dehydrocholesterol Reductase Deficiency
- 7-Dehydrocholesterol Reductase Deficiencies
- Deficiencies, 7-Dehydrocholesterol Reductase
- Deficiency, 7-Dehydrocholesterol Reductase
- Reductase Deficiencies, 7-Dehydrocholesterol
- Reductase Deficiency, 7-Dehydrocholesterol
- Smith-Lemli-Opitz Syndrome, Type I
- Smith Lemli Opitz Syndrome, Type I
- Smith-Lemli-Opitz Syndrome, Type 1
- Smith Lemli Opitz syndrome, type 1
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