SNP Shot: Genomic Insights

Crouzon syndrome is a genetic condition where specific skull bones fuse together too early (craniosynostosis). This premature fusion restricts normal skull growth and alters the head and facial structure.

The early fusion of skull bones in Crouzon syndrome leads to various distinctive features. These include widely spaced and protruding eyes, as well as vision difficulties arising from shallow eye sockets. Misalignment of the eyes (strabismus), a nose with a beaked appearance, and an underdeveloped upper jaw are also common. Furthermore, individuals with Crouzon syndrome may experience dental issues and hearing impairment, occasionally linked to narrow ear canals. A small number of affected individuals might also have a cleft lip and palate. The intensity of these characteristics varies significantly from person to person. Importantly, people with Crouzon syndrome typically possess normal cognitive abilities.

Inheritance:

Crouzon syndrome follows an autosomal dominant inheritance pattern. This means that only one copy of the mutated gene in each cell is enough to cause the syndrome.