Acrocephalosyndactylia

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2021-01-18
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Acrocephalosyndactylia (or acrocephalosyndactyly) is the common presentation of craniosynostosis and syndactyly.

Cause

Diagnosis

Classification

It has several different types:

  • type 1 – Apert syndrome:577
  • type 2 – Crouzon syndrome:577
  • 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.

Treatment

See also

  • List of skin conditions
  • Oxycephaly