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.

It is an autosomal recessive, multiple malformation syndrome caused by a mutation in the enzyme 7-Dehydrocholesterol reductase encoded by the DHCR7 gene. It causes a broad spectrum of effects, ranging from mild intellectual disability and behavioural problems to lethal malformations.

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. Disease severity varies greatly, even within the same family.

2021年11月17日 · 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 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.

1998年11月13日 · 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.

2024年1月11日 · Smith-Lemli-Opitz syndrome (SLOS) is a rare inherited condition characterized by a defect in cholesterol synthesis, resulting in low plasma cholesterol levels and raised levels of precursor 7-dehydrocholesterol (7-DHC).

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 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 (SLO) syndrome is a rare metabolic disease. It was named for the 3 doctors who first identified the disease in patients, back in 1964: David Smith, Luc Lemli, and John Opitz. People with SLO have a problem making cholesterol.