Symbol
| SLOS
|
Location
| 11q13.4
|
Name
|
Smith-Lemli-Opitz syndrome |
Other name(s)
|
rutledge lethal multiple congenital anomaly syndrome
polydactyly, sex reversal, renal hypoplasia, and unilobular lung |
Corresponding gene
|
DHCR7
|
Other symbol(s)
| SLO, RSH
|
Main clinical features
|
characterized by mental and growth retardation, cleft palate, hypospadias, postaxial polydactyly, distinct craniofacial abnormalities, hypocholesterolemia and increased levels of 7 dehydrocholesterol and secondary detect of LDL cholesterol metabolism in fibroblasts |
Genetic determination
| autosomal recessive |
Prevalence
| between 1:15000 and 1:60000 in populations of European origin
|
Related entries
| including the acrodysgenital syndrome and lethal forms
|
Function/system disorder
| congenital malformation |
| mental retardation |
| metabolism/lipoprotein-lipid |
Type
| disease
|