Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic condition affecting multiple body systems. Signs and symptoms may include characteristic facial features, small head size, growth and developmental delays, and intellectual and behavioral problems.

Nov 13, 1998 · Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple-anomaly / cognitive impairment syndrome caused by an abnormality in cholesterol metabolism resulting from deficiency of the enzyme 7-dehydrocholesterol (7-DHC) reductase.

Smith–Lemli–Opitz syndrome is an inborn error of cholesterol synthesis. [1] It is an autosomal recessive, multiple malformation syndrome caused by a mutation in the enzyme 7-Dehydrocholesterol reductase encoded by the DHCR7 gene.

Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic condition caused by the inability of the body to make enough cholesterol to support normal cellular function, growth, and development.

Jan 11, 2024 · Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder resulting from an inability to synthesize cholesterol. The syndrome is rare but severe, with an incidence of 1 in 10,000 to 70,000 newborns.

Smith-Lemli-Opitz syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by distinctive facial features, small head size (microcephaly), intellectual disability or learning problems, and behavioral problems.

Nov 17, 2021 · Smith-Lemli-Opitz syndrome (SLOS) is a genetic condition that affects many parts of the body. It is an autosomal recessive genetic condition caused by changes in the DHCR7 gene. Problems associated with SLOS are usually noticeable before or …

Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic condition affecting multiple body systems. Signs and symptoms may include characteristic facial features, small head size, growth and developmental delays, and intellectual and behavioral problems.

Smith-Lemli-Opitz syndrome is a genetic disorder that affects the development of children both before and after birth. The syndrome was first described in 1964 in three boys with poor growth, developmental delays, and a common pattern of congenital malformations, including cleft palate, genital malformations, and polydactyly (extra fingers and ...

Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems. SLOS is most common in central and northern Europe with an estimated incidence of around 1/ 20,000 to 1/ 40,000 births.