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Smith-Lemli-Opitz syndrome: A multiple congenital malformation syndrome caused by an abnormality in cholesterol metabolism, deficiency of the enzyme 7-dehydrocholesterol reductase (DHCR7), due to mutation of the DHCR7 gene on chromosome 11.
The syndrome is characterized by growth retardation, microcephaly (small head), mental retardation, and malformations that include distinctive facial features, cleft palate, heart defects, underdeveloped external genitalia in males, polydactyly (extra digits), and syndactyly (webbing) of the toes.
The syndrome is inherited in an autosomal recessive manner and, interestingly, is associated with low cholesterol levels in blood.
Smith-Lemli-Opitz syndrome (SLOS) is a multiple congenital anomalies (MCA)/mental retardation (MR) syndrome caused by a defect in cholesterol synthesis.
Our mission is to support individuals affected by the Smith-Lemli-Opitz (SLOS) | RSH Syndrome, promote awareness, and to fund research into treatments and ultimately a ...
Smith-Lemli-Opitz syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by distinctive facial features ...
Disease characteristics. Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple anomaly syndrome caused by an abnormality in cholesterol metabolism resulting from ...
Article describes Smith-Lemli-Opitz syndrome, its symptoms, diagnosis, and treatment.