Saethre-Chotzen syndrome (SCS) is a genetic condition characterized by premature fusion of the skull bones (craniosynostosis) and associated abnormal growth of the head and face. It was first noted in 1931 by the Norwegian psychiatrist H. Saethre, and then independently described in 1932 by the German psychiatrist F. Chotzen.
Most people with this condition have normal intelligence, though developmental delays have been reported. This syndrome typically causes premature fusion of the coronal suture of the skull (single suture craniosynostosis), although it may also cause more than one suture to close prematurely (multisuture craniosynostosis). Some people have an associated high forehead, low frontal hairline, droopy eyelids (ptosis), widely spaced eyes (hypertelorism), and a broad nasal bridge. Mild abnormalities in the hands and feet may also occur.
How common is Saethre-Chotzen syndrome?
SCS is seen in about 1 in 25,000 to 50,000 people. The degree to which an individual is affected varies greatly, even among family members who have inherited this condition.
What are the genetics?
SCS is associated with mutations in the TWIST1 gene. The TWIST1 gene provides instructions for making a protein that is involved in the development of the bones and muscles of the skull and face, as well as the development of the limbs. A shortage of this protein can lead to the symptoms described above, including craniosyostosis.
In some cases, an affected person inherits the mutation from one affected parent (autosomal dominant pattern). This means that only one copy of the altered gene is needed to cause the disorder. The degree to which a person is affected varies greatly, as mentioned above. It can, however, also occur in people with no family history of the disorder, which means it is a new, spontaneous mutation.
What treatments are available?
All children with Saethre-Chotzen syndrome need to be monitored closely throughout childhood and even into adulthood. Children with craniosynostosis need to be differentiated into those with single suture craniosynostosis and those with multisuture craniosynostosis. Treatment of single suture synostosis is addressed in detail in our separate section under craniosynostosis. Briefly, the goal is a single surgical treatment around 9-12 months of age. Craniosynostosis is treated by cranial vault reconstruction. Cranial vault reconstruction is the repositioning and reshaping of the skull (cranium), allowing expansion of the intracranial volume needed for brain growth. This allows the developing brain to function in a healthy environment without increased intracranial pressure. Children with Saethre-Chotzen syndrome will need to be monitored for signs of increased intracranial pressure throughout infancy and childhood. Signs of increased intracranial pressure may include irritability in infancy, delayed developmental milestones, headaches in older children, visual changes, and lethargy (feeling sluggish).
Infants or children with more than one suture affected (multisuture craniosynostosis) are at a higher risk for developing these symptoms sooner than those with only one suture affected (single suture craniosynostosis). Treatment of Saethre-Chotzen Syndrome must be individualized, based on the needs of each child. In addition, less common symptoms of SCS may include short stature, abnormalities of the bones of the spine (vertebrae), cleft palate, hearing loss, and heart defects.
Why Choose the Craniofacial Team of Texas?
The psychosocial development of the patient also needs special care and support as they often face unique challenges at an early stage of life. The Craniofacial Team of Texas includes craniofacial surgeons, an orthodontist, a pediatrician, speech therepists, nurse coordinators, physician assistants, nurse practitioners, and social workers with extensive experience with children with facial differences, including specifically Saethre-Chotzen syndrome. We work closely and in coordination with our specialized colleagues in otolaryngology (ear, nose, and throat), ophthalmology, neurosurgery, reconstructive hand surgery, as well as your child’s primary care provider.
Please contact the Craniofacial Team of Texas if you would like to schedule an appointment.
If you would like more information about this craniofacial anomaly, please contact the Craniofacial Team of Texas by calling 512-377-1142 or toll free 877-612-7069 to schedule an appointment or complete an online appointment request.