Acrocephalosyndactyly

Acrocephalosyndactyly syndromes (ACS) are a rare group of disorders collectively characterized by:

• calvarial anomalies, e.g. craniosynostoses
• digital anomalies, e.g. syndactyly

Classification

While there can be some overlap in features, they can be primarily classified into the following major types:

• type I: Apert syndrome ¹
• type II: Apert-Crouzon syndrome ⁵
• type III: Saethre-Chotzen syndrome ³
• type IV: Goodman syndrome ⁶
• type V: Pfeiffer syndrome
• others
  • Robinow-Sorauf syndrome

When there are calvarial anomalies with polydactyly and syndactyly, these then fall into group named acrocephalopolysyndactyly syndromes (ACPS). However, many suggest that the distinction between ACS and ACPS should be abandoned ^ref.