What is SLOS and why is it important to people who have a child with autism?
Smith Lemli Opitz syndrome (SLOS) is a genetic disorder named after the physicians who discovered caused by a mutation that impairs or completely stops the last step of cholesterol production, leading to varying degrees of deficiency of cholesterol. The disease is homozygous recessive, meaning that a child needs to receive an abnormal gene from each parent or 2 abnormal genes to get the disease. It is estimated that carriers of the disease (people who only have one of the defective genes) may be as common as 1 in every 30 people with disease incidences on the order of 1 in 1,590 to 1 in 13,500. Some children with SLOS have no detectable cholesterol in their blood serum. Children or adults with SLOS have varying degrees of impairment that depend on the particular mutation in the gene that causes cholesterol deficiency of different degrees. Children with SLOS may present with specific facial dysmorphism and may have multiple congenital anomalies including cleft palate, congenital heart d
