Apert syndrome is primarily characterized by specific malformations of the skull, midface, hands, and feet (it is a form of acrocephalosyndactyly). It is classified as a branchial arch syndrome, affecting the first branchial (or pharyngeal) arch, the precursor of the maxilla and mandible. The skull is prematurely fused and unable to grow normally; the midface (that area of the face from the middle of the eye socket to the upper jaw) appears retruded or sunken; and the fingers and toes are fused together in varying degrees. Apert syndrome is named for the French physician who first described it, E. Apert, in 1906.
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Major features of Apert syndrome include
- Prematurely fused cranial sutures
- A hypoplasia of midface
- Fused fingers
- Fused toes