Smith-Lemli-Opitz syndrome | About the Disease | GARD
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 - Wikipedia
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 - GeneReviews® - NCBI Bookshelf
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.
Smith-Lemli-Opitz syndrome - MedlinePlus
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.
Smith-Lemli-Opitz Syndrome - StatPearls - NCBI Bookshelf
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 - Symptoms, Causes, Treatment
2021年11月17日 · Learn about Smith-Lemli-Opitz Syndrome, including symptoms, causes, and treatments. If you or a loved one is affected by this condition, visit NORD to find.
Smith-Lemli-Opitz Foundation
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.
Living with SLOS - Smith-Lemli-Opitz Foundation
Understanding Smith-Lemli-Opitz syndrome (SLOS) is the start of improving the quality of life. Learn about the biochemical discovery of Smith-Lemli-Opitz syndrome. Discover what tests physicians use to determine if an individual has SLOS. Read about the different characteristics associated with this syndrome.
Smith-Lemli-Opitz Syndrome - PMC
Smith-Lemli-Opitz syndrome (SLOS) is a multiple congenital malformation/intellectual disability syndrome, with clinical characteristics encompassing a wide spectrum and great variability.
Smith–Lemli–Opitz syndrome: pathogenesis, diagnosis and …
2008年2月20日 · Smith–Lemli–Opitz syndrome (SLOS) is an autosomal recessive, multiple malformation syndrome due to an inborn error of cholesterol synthesis. The SLOS phenotypic spectrum is very broad,...