It is an autosomal recessive genetic condition caused by changes in the dhcr7 gene.
Syndrome smith lemli opitz. 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. 189 the incidence of slos is estimated from 1:80,000 to 1:13,000. De cette façon, nous sommes tous égaux.
This prevents normal androgen synthesis. More than 100 mutations have been described, but two predominate: This condition is characterized by distinctive facial features, small head size (microcephaly), intellectual disability or learning problems, and behavioral problems.
Results of a multicenter trial. Although historically a clinical distinction was often made between a classic 'type i' disorder and a more severe 'type ii' disorder, in reality the syndrome constitutes a clinical and biochemical continuum from mild to severe (opitz et al., 1987; 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.
It is characterized by prenatal and postnatal growth restriction, microcephaly,. Problems associated with slos are usually noticeable before or shortly after birth (congenital).