Medical Definition of Apert syndrome acrocephalosyndactyly

  • Medical Author:
    Melissa Conrad Stöppler, MD

    Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.

Reviewed on 12/27/2018

Apert syndrome acrocephalosyndactyly: An inherited disorder causing abnormalities of the skull, face and hands and feet.

There is premature closure of some of the sutures of the skull (craniosynostosis) resulting in an abnormally shaped head (which is unusually tall but short from front-to-back) and an abnormally shaped face (with shallow eye sockets and underdevelopment of the midface). There is fusion of fingers and toes (syndactyly) and broad ends of the thumbs and big toes.

Surgery is often useful with the skull, face, hands and feet.

The best-known type of acrocephalosyndactyly is Apert syndrome which is due to a mutation in the fibroblast growth factor receptor 2 (FGFR2) gene on chromosome 10. Different mutations in FGFR2 are responsible for two other genetic diseases, namely, Pfeiffer syndrome (another type of acrocephalosyndactyly) and Crouzon syndrome (purely a craniofacial disorder with no hand or foot problems). All are dominant traits.

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Reviewed on 12/27/2018