It is an autosomal recessive genetic condition caused by changes in the dhcr7 gene.

Syndrome smith lemli opitz. The c.964g>c mutation is mostly found in north america and western europe,. De cette façon, nous sommes tous égaux. 189 the incidence of slos is estimated from 1:80,000 to 1:13,000.

This condition is characterized by distinctive facial features, small head size (microcephaly), intellectual disability or learning problems, and behavioral problems. Problems associated with slos are usually noticeable before or shortly after birth (congenital). Results of a multicenter trial.

The syndrome was first described in 1964 in three boys with poor growth, developmental delay, and a common pattern of congenital malformations including cleft palate, genital malformations, and polydactyly (extra. More than 100 mutations have been described, but two predominate: Smith lemli opitz syndrome is a congenital developmental disorder characterized by distinctive facial features, intellectual and learning disability, behavioral issues, and small head ( microcephaly ), among other manifestations.

This prevents normal androgen synthesis. It is characterized by prenatal and postnatal growth restriction, microcephaly,.