SNP Shot: Genomic Insights

Jackson-Weiss syndrome is a genetic condition defined by two primary features: foot defects and craniosynostosis, which is the early joining of specific skull bones. This premature fusion restricts normal skull growth, impacting the head and facial structure.

The distinctive facial characteristics seen in Jackson-Weiss syndrome are largely due to the premature closure of skull bones. The unusual bone growth results in a skull malformation, widely set eyes, and a prominent forehead.

Foot anomalies are the most reliable indicator of Jackson-Weiss syndrome. Halluxes (big toes) are typically short, broad, and angled away from the other toes. Furthermore, some toes may be webbed together (syndactyly) or exhibit unusual shapes. The hands are almost invariably unaffected.

Hearing loss can occur in some individuals with Jackson-Weiss syndrome. Importantly, people affected by Jackson-Weiss syndrome typically have normal cognitive abilities and a normal life expectancy.

Inheritance:

Jackson-Weiss syndrome follows an autosomal dominant inheritance pattern. This means that inheriting just one copy of the mutated gene in each cell is enough to cause the disorder.