Crouzon Syndrome


 Crouzon syndrome is a genetic condition that results in an abnormal fusion of some of the bones of the skull and 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. It was 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.

Patients can be seen by Texas Children's experts in Neurosurgery and Plastic Surgery.

Causes & Risk Factors

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 occurs because of a spontaneous change in FGFR2, the gene that causes Crouzon syndrome.

Symptoms & Types

Crouzon syndrome is a genetic birth disorder characterized by the premature joining of certain bones of the skull during development, which affects the shape of the head and face.

Most children with Crouzon syndrome are of normal intelligence.

Common features of this syndrome include:

  • wide-set, bulging eyes
  • crossed eyes (strabismus)
  • beaked nose
  • underdeveloped upper jaw
  • protruding lower jaw
  • overcrowding of teeth
  • high-arched palate

Diagnosis & Tests

Diagnosis starts with a detailed medical history and a physical exam.

Additional testing such as blood tests and imaging studies are conducted based on each individual child’s presentation.

Treatment & Care

Treatment depends on the individual patient and the severity of the symptoms.

In the Texas Children’s Hospital Craniofacial Program, we approach Crouzon Syndrome with a multidisciplinary team of expert surgeons and specialists in (but not limited to):

  • Pediatric neurosurgery
  • Pediatric craniofacial surgery (plastic surgery)
  • Ophthalmology
  • Oral surgery
  • Orthodontics

Surgery takes place in multiple stages and may begin by addressing the craniosynostosis to prevent the closure of gaps between the skull bones. It is important to keep these gaps from fusing together, as premature fusion can cause brain damage or result in underdevelopment. In addition, extensive facial and orthodontic surgeries are typically required.

Related Topics