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Descriptor English:   Smith-Lemli-Opitz Syndrome 
Descriptor Spanish:   Síndrome de Smith-Lemli-Opitz 
Descriptor Portuguese:   Síndrome de Smith-Lemli-Opitz 
Synonyms English:   7-Dehydrocholesterol Reductase Deficiency
Hyperotosis Corticalis Generalisata Familiaris
Lethal Acrodysgenital Syndrome
Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung
RSH Syndrome
RSH-SLO Syndrome
Rutledge Friedman Harrod Syndrome
Rutledge Lethal Multiple Congenital Anomaly Syndrome
SLO Syndrome
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
7-Dehydrocholesterol Reductase Deficiencies
Acrodysgenital Syndrome, Lethal
Acrodysgenital Syndromes, Lethal
Deficiencies, 7-Dehydrocholesterol Reductase
Deficiency, 7-Dehydrocholesterol Reductase
Lethal Acrodysgenital Syndromes
RSH SLO Syndrome
RSH Syndromes
RSH-SLO Syndromes
Reductase Deficiencies, 7-Dehydrocholesterol
Reductase Deficiency, 7-Dehydrocholesterol
SLO Syndromes
Smith Lemli Opitz Syndrome
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  
Tree Number:   C16.131.077.860
Definition English:   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. 
History Note English:   1996 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
DI diagnosis DG diagnostic imaging
DH diet therapy DT drug therapy
EC economics EM embryology
EN enzymology EP epidemiology
EH ethnology ET etiology
GE genetics HI history
IM immunology ME metabolism
MI microbiology MO mortality
NU nursing PS parasitology
PA pathology PP physiopathology
PC prevention & control PX psychology
RT radiotherapy RH rehabilitation
SU surgery TH therapy
UR urine VE veterinary
VI virology  
Record Number:   32609 
Unique Identifier:   D019082 

Occurrence in VHL: