SNP Shot: Genomic Insights

Smith-Lemli-Opitz syndrome (SLOS) is a developmental condition impacting various bodily systems. Common traits include distinct facial characteristics, a smaller-than-normal head (microcephaly), intellectual disabilities or learning difficulties, and behavioral issues. A significant number of children with SLOS exhibit features associated with autism, a developmental condition impacting communication and social skills. Furthermore, heart, lung, kidney, gastrointestinal, and genital malformations frequently occur. Infants with SLOS often present with low muscle tone (hypotonia), difficulty feeding, and a slower growth rate compared to other infants. A common physical finding is fused second and third toes (syndactyly); some individuals may also have extra fingers or toes (polydactyly).

The severity of Smith-Lemli-Opitz syndrome varies considerably. Some individuals experience only minor physical anomalies coupled with learning and behavioral challenges. Conversely, severe cases can be life-threatening, characterized by significant intellectual disability and substantial physical malformations.

Inheritance:

SLOS follows an autosomal recessive inheritance pattern. This signifies that both copies of the causative gene in each cell contain mutations. Each parent of an individual affected by an autosomal recessive condition carries one mutated gene copy, but they usually do not exhibit any signs or symptoms of the syndrome themselves.