Saethre-Chotzen syndrome is a genetic disorder in which some seams of the skull fuse too early in prenatal development. It is a form of syndromic craniosynostosis generally characterized by a cone-shaped head, asymmetrical face, low-set hairline and droopy eyelids (ptosis).
Most children with this disorder have a relatively flat face because of underdeveloped eye sockets, cheekbones and lower jaw. Some children with Saethre-Chotzen syndrome may have additional craniofacial anomalies such as cleft palate, low-set ears and dental issues.
Children with Saethre-Chotzen syndrome also commonly have birth defects affecting the hands and feet. While some fusing of the fingers (syndactyly) may be present, they generally don’t have severe hand anomalies seen in Apert syndrome.
6-month-old with Saethre Chotzen syndrome. Note the high forehead and low hair line, shallow eye orbits, beak-shaped nose. The craniosynostosis had resulted in retrusion above the eyes and a tall and short head shape.
There are a multitude of other rare syndromic forms of craniosynostosis, including Carpenter syndrome (also known as acrocephalopolysyndactyly type II), craniofrontonasal syndrome (also known as craniofrontonasal dysplasia) and Jackson-Weiss syndrome.
The treatment of Saethre-Chotzen syndrome is dependent upon both functional and appearance-related needs, and should be addressed immediately after your child is born. Because of the complex issues that can be associated with Saethre-Chotzen syndrome, your child should be treated at a medical center where she will have access to pediatric specialists across the many clinical areas she may need.
At The Children’s Hospital of Philadelphia, coordinated care of patients with Saethre-Chotzen syndrome is typically managed through the Craniofacial Program, working closely with the Center for Pediatric Airway Disorders to address breathing issues, as well as the Pediatric Feeding and Swallowing Center to manage feeding issues. Eye protection or balance issues, such as strabismus, are coordinated through the Division of Ophthalmology.
Because every patient with Saethre-Chotzen syndrome has unique problems, the timing and course of surgical treatment is highly individualized. It is important to see a surgeon with expertise in pediatric plastic and reconstructive surgery who specializes in treating these rare conditions. Learn more about the surgical treatment approach for syndromic craniosynostosis.
As your child grows, she should also have access to psychosocial support services to address any mental, social or psychological issues that accompany these conditions.
Watch our educational video to learn more about the services and treatment options CHOP offers to children with craniofacial conditions such as Saethre-Chotzen syndrome.