Acrocephalosyndactylia

Acrocephalosyndactylia (or acrocephalosyndactyly) is the common presentation of craniosynostosis and syndactyly.^[1]

It has several different types:

• type 1 – Apert syndrome^[2]
• type 2 – Apert syndrome^[3]
• type 3 – Saethre-Chotzen syndrome^[4]
• type 5 – Pfeiffer syndrome ^[5][6]

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.^[6]
• type 2 – Carpenter syndrome ^[7]
• type 3 – Sakati-Nyhan-Tisdale syndrome ^[8]
• type 4 – Goodman syndrome.^[9][10] Now classified with Carpenter syndrome.^[11]
• type 5 – Pfeiffer syndrome

It has been suggested that the distinction between “acrocephalosyndactyly” versus “acrocephalopolysyndactyly” should be abandoned.^[12]