Saethre-Chotzen syndrome

Home Diagnoses Craniosynostosis and other craniofacial anomalies Craniosynostosis Multisuture and syndromic craniosynostosis Saethre-Chotzen syndrome

Characteristic findings are:

Uni- or bicoronal suture synostosis

Ptosis of upper eyelid(s)

Obstructed tear ducts

Short fingers with mild syndactyly

Short stature

Genetic cause is a mutation or deletion in TWIST1 gene.