Saethre-Chotzen Syndrome is a condition that causes the premature fusion of specific bones in the skull. This causes the skull to grow incorrectly, affecting the shape of the head and the face. This is a rare condition that is linked to genetic factors.
The symptoms of Saethre-Chotzen Syndrome are:
This condition is genetic, and it is inherited from a child’s parents. In some rare cases, it can be caused by a gene mutation as well. Genetic predisposition is the main risk factor for this condition.
Diagnosis is often originally made through physical examination. Patients with Saethre-Chotzen Syndrome begin to display changes in head shape very early in most cases. X-rays can be done to confirm changes to the shape of the head and to verify affected tissue and organs that are impacted by the incorrect growth patterns related to the condition. CT scans can also be used to look more closely at the shape of parts of the head and bones of the face.
Blood samples can be used in genetic testing to confirm that the patient has the gene changes that lead to Saethre-Chotzen Syndrome.
The only way to prevent this condition is to get genetic testing done before you get pregnant. A genetic counsellor can advise people who want to have children about the likelihood that their children will have this congenital problem.
Treatment of Saethre-Chotzen Syndrome often requires surgery to correct the shape of the skull. Repairs to the eyes and nose or the eyelids are often also necessary. Webbed toes and fingers can be separated with surgery as well. These patients will need frequent eye exams and often need speech therapy or treatment to support their hearing. An orthopaedic specialist might also be involved in the case to help care for skeletal deformities.