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
- 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 5.
- low maternal low estriol 4: although nonspecific
There may be increased nuchal translucency in 1st trimester as an early feature 3. 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.
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