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