Apert Syndrome

Apert Syndrome

Craniofacial Conditions > Apert Syndrome

What is Apert Syndrome?

A condition of facial difference (craniosynostosis) characterized by a large skull, widely spaced eye sockets, bulging eyeballs, tilted eyelids, underdevelopment of the upper jaw, misalignment and crowding of the teeth, webbed fingers, toes or both; can also include cleft palate and mental retardation.

The gene for Apert Syndrome has been located on chromosome 10, and it is called Fibroblast Growth Factor Receptor 2 (FGFR2). (Charkins, 1996)

Characteristics of Apert Syndrome

Apert Syndrome is a condition involving distortions of the head and face and webbing of the hands and feet. Characteristics include:

  • Skull – short from back to front, wide on the sides, and overly tall (craniosynostosis)
  • Eyes – slightly side-spaced, bulging, the eyelids tilt downward abnormally at the sides
  • Face – the mid-face has a sunken-in appearance, the upper jaw slopes backward, lower teeth project in front of the upper teeth
  • Hands and feet – webbing and/or fusion including finger bones, toe bones, and joints of fingers and toes

Patient Spotlight

Meet Sara. She’s found community through surfing and encourages other young people to find hobbies they enjoy.

“My lasting wish is that all children with craniofacial conditions or disabilities find the strength to fight for their dreams and live outside their comfort zone.”

Read more about Sara’s story.

Sara blog The Face of Life feature image

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