Stephen J. Schueler, M.D.

Overview Treatment Underlying Cause Genetics

Acrocephalosyndactyly Overview

Another name for Acrocephalosyndactyly is Apert's Syndrome.

What is Apert's syndrome?
An infant with Apert's syndrome has a rare genetic disorder that results in webbed toes or fingers, a small skull, and an abnormal facial structure. Apert's syndrome is caused by an abnormal gene that results in abnormal development of the fetus during pregnancy.

What are the symptoms of Apert's syndrome?
Symptoms of Apert's syndrome include skeletal limb deformities and severe under development of the mid-face. Other features include prominent or bulging eyes, webbing of digits, short height, hearing loss, occasional slow intellectual development, and ear infections.

How does the doctor treat Apert's syndrome?
There is no treatment for Apert's syndrome. Surgery can be offered to correct some skeletal and facial deformities.

Continue to Acrocephalosyndactyly Treatment

Last Updated: Feb 6, 2010 References
Authors: Stephen J. Schueler, MD; John H. Beckett, MD; D. Scott Gettings, MD
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PubMed Acrocephalosyndactyly References
  1. Katzen JT, McCarthy JG. Syndromes involving craniosynostosis and midface hypoplasia. Otolaryngol Clin North Am. 2000 Dec;33(6):1257-84, vi. [11449786]
  2. Kaufmann K, Baldinger S, Pratt L. Ultrasound detection of Apert syndrome: a case report and literatureAm J Perinatol. 1997 Aug;14(7):427-30. [9263565]
  3. Prevel CD, Eppley BL, McCarty M. Acrocephalosyndactyly syndromes: aJ Craniofac Surg. 1997 Jul;8(4):279-85. [9482052]
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