Acrocephalosyndactyly

Acrocephalosyndactyly describes a group of polymorphic syndromes with acrocephaly and at least one syndactyly.

Acrocephaly is a type of craniosynostosis, i.e. in patients, the premature closure of the sagittal and frontal sutures causes a vertical deformation, which manifests itself in a flat occiput. Syndactyls vary in severity to a picture of "mitt" hands. In addition, pre- and post-axial polydactyly was found in most patients.

To date, there are already six different types of the syndrome. These are the Apert, Carpenter, Apert-Chrouzon, Saethre-Chotzen and Pfeiffer syndromes. They are distinguished on the basis of heredity, type of malformations and type of concomitant anomalies. For a clear classification of a patient, a mutation analysis is essential.