Apert Syndrome

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.

photo from dryeffects tumblr

Major features of Apert syndrome include

  • Prematurely fused cranial sutures
  • A hypoplasia of midface
  • Fused fingers
  • Fused toes

Apert.org

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