Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome (SLOS) is a genetic disorder caused by a mutation affecting how the body produces cholesterol, which is essential for cell structure and hormone creation. This condition leads to a range of physical features such as distinctive facial characteristics, limb anomalies, and sometimes intellectual disabilities. Babies with SLOS might also have feeding difficulties, growth delays, and developmental challenges. Since cholesterol is vital for many body functions, managing SLOS often involves specialized medical care, including dietary adjustments and hormone therapies. It is inherited in an autosomal recessive manner, meaning both parents need to carry the gene for a child to be affected.