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Related Experiment Videos

[Syndromes 2. Pfeiffer syndrome].

H P Freihofer1

  • 1Afdeling Mond- en Kaakchirurgie, Academisch Ziekenhuis Nijmegen, postbus 9101, 6500 HB Nijmegen.

Nederlands Tijdschrift Voor Tandheelkunde
|April 4, 2002
PubMed
Summary
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[Syndromes 7. Hypertelorism (Greig syndrome)].

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[Single or double?].

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Acrocephalosyndactylias are rare genetic disorders affecting head, face, hands, and feet. These syndromes, like Pfeiffer syndrome, exhibit variable inheritance patterns and symptoms.

Area of Science:

  • Genetics
  • Developmental Biology
  • Medical Syndromes

Context:

  • Acrocephalosyndactylias encompass a group of rare genetic disorders.
  • These syndromes are characterized by craniosynostosis, facial abnormalities (hypertelorism, retromaxillism), and syndactyly of hands and feet.
  • Inheritance is typically autosomal dominant, though spontaneous mutations occur.

Purpose:

  • To define acrocephalosyndactylias and their key features.
  • To illustrate the spectrum of these syndromes.
  • To highlight Pfeiffer syndrome as a representative example.

Summary:

  • Acrocephalosyndactylias involve craniofacial and limb malformations.
  • Genetic factors, including autosomal dominant inheritance and spontaneous mutations, underlie these conditions.

Related Experiment Videos

  • Pfeiffer syndrome serves as a clinical example of this syndrome group.

    • Impact:

    • Improved understanding of craniofacial and limb development disorders.
    • Foundation for diagnosing and managing acrocephalosyndactylias.
    • Aids in genetic counseling for affected families.