Supriya Ghosh (Editor)

Acrocephalosyndactylia

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Specialty
  
medical genetics

ICD-9-CM
  
755.55

ICD-10
  
Q87.0

MeSH
  
D000168

Acrocephalosyndactylia (or acrocephalosyndactyly) is the common presentation of craniosynostosis and syndactyly.

Classification

It has several different types:

  • type 1 - Apert syndrome
  • type 2 - Crouzon syndrome
  • type 3 - Saethre-Chotzen syndrome
  • type 5 - Pfeiffer syndrome

    • A related term, "acrocephalopolysyndactyly" (ACPS), refers to the inclusion of polydactyly to the presentation. It also has multiple types:

  • type 1 - Noack syndrome; now classified with Pfeiffer syndrome
  • type 2 - Carpenter syndrome
  • type 3 - Sakati-Nyhan-Tisdale syndrome
  • type 4 - Goodman syndrome; now classified with Carpenter syndrome
  • type 5 - Pfeiffer syndrome

    • It has been suggested that the distinction between "acrocephalosyndactyly" versus "acrocephalopolysyndactyly" should be abandoned.

    References

    Acrocephalosyndactylia Wikipedia
    (Text) CC BY-SA