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Pfeiffer syndrome: systemic and ocular implications.

Elise Harb1, Barry Kran

  • 1New England College of Optometry, Boston, Massachusetts, USA.

Optometry (St. Louis, Mo.)
|July 26, 2005
PubMed
Summary

Pfeiffer syndrome is a rare genetic disorder causing craniosynostosis and limb abnormalities. Eye care professionals play a key role in diagnosing and managing this condition, which affects 15 in 1 million births.

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Area of Science:

  • Genetics
  • Medical Genetics
  • Pediatric Genetics

Background:

  • Pfeiffer syndrome, a rare genetic disorder, is characterized by craniosynostosis, broad thumbs and great toes, and partial syndactyly.
  • It affects males and females equally, often arising from de novo mutations but can be inherited in an autosomal dominant manner.
  • Classified as Acrocephalosyndactyly Type V, it involves premature closure of cranial sutures and has described subgroups.

Purpose of the Study:

  • To provide guidelines for the diagnosis and management of Pfeiffer syndrome.
  • To highlight the essential role of eye care professionals in identifying and managing the syndrome.
  • To clarify the differential diagnosis among Pfeiffer types and other acrocephalosyndactyly syndromes.

Main Methods:

  • Review of existing literature on Pfeiffer syndrome.
  • Analysis of diagnostic criteria and clinical manifestations.
  • Compilation of guidelines for ophthalmic and functional testing.

Main Results:

  • Pfeiffer syndrome affects approximately 15 of every 1 million births.
  • Differential diagnosis can be challenging among Pfeiffer types and other acrocephalosyndactyly syndromes.
  • Ocular and craniofacial implications are significant aspects of the syndrome.

Conclusions:

  • Pfeiffer syndrome requires careful diagnosis and management, with a focus on craniofacial and ocular features.
  • Eye care professionals are crucial for early detection and ongoing care.
  • Comprehensive guidelines are needed to address the diagnostic and management complexities of this rare disorder.

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