Catalog

Saethre-Chotzen syndrome

No MMS code

Link to WHO Definition

Saethre-Chotzen syndrome – http://id.who.int/icd/entity/2109857109

Saethre-Chotzen syndrome is a syndromic craniosynostosis associated with mutations in the TWIST1 gene and characterised by premature closure of coronal suture resulting in an anterior plagiocephalus or brachycephalus. An Oxycephalus may occur. Upper eyelid ptosis, small auricle, broad halluces and cutaneous webbing Digitus II/III (III/IV) are the most common clinical features. Intracranial pressure can be elevated in 30 -50%.