Smith-Lemli-Opitz Syndrome (SLOS)

Smith-Lemli-Opitz syndrome (SLOS) is an inherited disorder caused by a lack of enzyme 7-dehydrocholesterol reductase which leads to problems in cholesterol metabolism. The symptoms include stunted growth, small head, polydactyly, cleft palate, intellectual disability, and underdeveloped genitalia. Those with this rare condition often have drooping eyelids, long upper lip, small jaw, and big ears. They are also usually sensitive to light,and may present with seizures, heart defects, and hypotonia. This syndrome is named after those who first described the symptoms, David Weyhe Smith (an American pediatrician), Luc Lemli (a Belgian physician), and John Marius Opitz (a German American physician).