Saethre-Chotzen syndrome is a genetic form of craniosynostosis, a condition caused by the premature fusion of the bony plates or sutures in the skull. Saethre-Chotzen syndrome results in deformities of the skull, face and limbs and is a rare condition apparent at birth. It is typically caused by mutations in the TWIST1 gene, which codes for a protein that is essential in normal formation of the bone, muscle, and other tissues in the head and face.


While craniosynostosis is the clearest sign at birth, children affected by Saethre-Chotzen syndrome may not develop abnormalities to their skull shape, and its presentation and onset is highly varied. When craniosynostosis is present, it usually is due to the premature suture of the coronal growth line that extends from ear to ear over the top of the head.

Most children with this disorder have a relatively flat face because of underdeveloped eye sockets, cheekbones and lower jaw. Other common characteristics include:

  • Asymmetrical face
  • Low-set hairline
  • Down-slanting eyes
  • Wide-set eyes (hypertelorism)
  • Droopy eyelids (ptosis)

Some children with Saethre-Chotzen syndrome may have additional craniofacial anomalies, such as cleft palate, low-set ears and dental issues.

Another sign of this condition is syndactyly, or the partial fusion of the second and third fingers, usually involving only soft tissue.

Delayed development and learning difficulties have been reported, although most people with this condition exhibit normal intelligence.

Patients with Saethre-Chotzen syndrome can have related health and developmental issues, reinforcing the need for coordinated, multidisciplinary care and access to a variety of pediatric subspecialists, which we provide at the North Carolina Cleft and Craniofacial Center.


Typically, your child’s doctor will be able to diagnose this condition through the physical signs, along with X-rays and CT scans at birth. A blood test will provide a definitive genetic diagnosis for Saethre-Chotzen syndrome.


Treatment for Saethre-Chotzen syndrome is determined by your child’s specific needs. Surgery to reshape the skull, repair nose and/or eyelids, and separate webbed fingers and toes is common. Additionally, our comprehensive care team may recommend hearing tests, speech therapy, and orthodontist visits. After treatment, your child should go on to have a normal life span.