Apert syndrome

Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder marked by malformations of the skull, face, hands and feet. It is classed as a branchial arch syndrome, affecting the first branchial arch, the precursor of the upper and lower jaw. In 1906 the French physician Eugène Apert described nine people who shared similar features. The name comes from Greek roots for a peaked head and webbed digits. Normally selective cell death separates the fingers and toes in the embryo, but in this condition it does not occur, so skin and rarely bone between the digits fuses. The skull bones are affected as in Crouzon and Pfeiffer syndromes, with craniosynostosis, the early fusion of the skull and facial bones that disrupts growth. Estimates of incidence range from about 1 in 200,000 to roughly 1 in 65,000 live births.