Medical Information - Saethre-Chotzen Syndrome

SAETHRE-CHOTZEN syndrome is a type of craniosynostosis; it was described by Saethre and Chotzen in the early 1930s. Affected individuals have very variable features, making the diagnosis of new cases difficult.

Common features:

• abnormal shaped head; it is usually the coronal sutures that are affected and the abnormal skull shape may result in raised intracranial pressure and require surgery to protect the restricted brain (both coronal sutures are affected: Brachycephaly = short wide head, one coronal suture affected: Plagiocephaly = an asymmetrical head);
• droopy eyelids (ptosis);
• short fingers, joining of the fingers (syndactyly) and broad toes (rarely cause any problems); and
• fusion of bones in the neck rarely causing problems but care must be taken during anaesthetics.

For further information:

• View the Saethre-Chotzen Syndrome information leaflet (pdf)
• Contact one of the UK National Craniofacial Units