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Acrocephalosyndactylia


Research Notes on Acrocephalosyndactylia

Acrocephalosyndactylia is a rare genetic disorder congenital at birth. It is characterized by acrocephaly of the skull, syndactyly of the hands and feet, and synostosis of the coronal sutures of the skull. Congenital heart defects, mental deficiency, reduced height, hearing loss and abnormalities in the bones of the legs may also be present. Acrocephalosyndactylia is a general term for several different conditions. 1 2

Fast Facts:

  • In the womb the hand first looks like a paddle, then it separates into fingers. 3
  • Eugène Apert first described Apert syndrome in 1906. 4
  • 1 in 100,000 individuals are affected by Pfeiffer syndrome. 5
  • 45 separate bony elements make up the human skull at birth. 6

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What is Acrocephalosyndactylia?

What Are The Symptoms of Acrocephalosyndactylia?

What Are The Causes and Prevention of Acrocephalosyndactylia?

What Are The Treatments for Acrocephalosyndactylia?

What Are The Alternative Treatments for Acrocephalosyndactylia?

What Are The Types and Stages of Acrocephalosyndactylia?

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Research Notes References

  1. Medcyclopaedia: Acrocephalosyndactyly
  2. Healthwise (via WebMD): Pfeiffer Syndrome
  3. E-Hand: What Caused It?
  4. Wikipedia: Overview
  5. Wikipedia: Pfeiffer Syndrome
  6. Wikipedia: Craniosynostosis

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