Smith-Lemli-Opitz syndrome (SLOS) also known as 7-dehydrocholesterol reductase deficiency is an inborn error of cholesterol synthesis.
The estimated incidence is at 1:20000-40000 live births. Prevalence may be greater in Nordic countries.
There are many which include:
- intellectual disability
- low set ears
- postaxial polydactyly
- syndactyly: usually 2 and 3 toes
- congenital cardiac anomalies
- congenital urogenital anomalies
- intra-uterine growth restriction (IUGR)
The condition often results from a mutation in the DHCR7 gene on chromosome 11q12-13 which reduces the activity of 7-dehydrocholesterol reductase. Rarely there may be a mutation in chromosome 7q32.1. There is then a lack of cholesterol production as well as a build-up of potentially toxic by-products of cholesterol production which accumulate in the blood and other tissues. It was traditionally classified into 2 types although they are not considered to represent the spectrum differing severity.
It carries an autosomal recessive inheritance .
- low maternal low estriol : although nonspecific
There may be increased nuchal translucency in 1trimester as an early feature . Antenatal ultrasound may also be able to detect some of the above clinical features.
Treatment and prognosis
The syndrome carries a poor prognosis with most infants not surviving soon after birth.
- nuchal translucency
- Intrauterine Wachstumsretardierung
- low set ears
- Morbus Hirschsprung