What Is Crouzon Syndrome?
Crouzon syndrome is a genetic condition with features of craniosynostosis (the early closure of skull sutures) and abnormal development of the eye sockets and midface.
These conditions occur when there is abnormal fusion between some of the bones of the skull and of the face that does not allow the bones to grow normally, affecting the shape of the head, the appearance of the face and the relationship of the teeth.
The features of Crouzon syndrome were first described by the French neurosurgeon Dr. O. Crouzon in 1912.
Crouzon syndrome differs from most other craniosynostosis syndromes because it does not involve abnormalities of the hands and feet. However, cervical spine abnormalities are fairly common, and a smaller percentage of patients may have subtle elbow, hand, musculoskeletal or internal organ anomalies.
Crouzon Syndrome in Children
Crouzon syndrome is a rare genetic disorder estimated to occur in 1.6 per 100,000 people. About 4.5% of people with craniosynostosis have Crouzon syndrome.
The cause of Crouzon syndrome is a genetic change or mutation in one of the fibroblast growth factor receptor (FGFR) genes — FGFR2 on chromosome 10 and FGFR3 on chromosome 4.
Some people inherit the Crouzon syndrome gene mutation from a parent. Only one parent needs to have an abnormal gene for the child to inherit the disease. A person with Crouzon syndrome has a 50% chance for each pregnancy of passing this mutation on to the child.
For other people, no one else in the family has a diagnosis of Crouzon syndrome and the condition occurred because of a spontaneous change in FGFR2, the gene that causes Crouzon syndrome.
Crouzon Syndrome at Seattle Children’s
Our craniofacial team has significant experience in treating children with Crouzon syndrome. Over the past five years, we have treated 31 children with Crouzon syndrome.
Each year we have at least two new children come to our center for treatment for the first time. Each year we perform an average of 13 surgeries for this condition.