Smith-Lemli-Opitz syndrome type 1
Type of disease: Rare conditions
Smith-Lemli-Opitz syndrome is a developmental disorder characterized by distinctive facial features, small head size (microcephaly), intellectual disability or learning problems, and behavioral problems. Malformations of the heart, lungs, kidneys, gastrointestinal tract, and genitalia may also occur. Smith-Lemli-Opitz syndrome is caused by mutations in the DHCR7 gene. It is inherited in an autosomal recessive pattern. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.