Crouzon Syndrome

Reports from the MHC data base

Report from the Observation Chart (PDF)

Codes

ICD-10: Q75.1
ORPHA: 207

Estimated occurrence

4:100 000 live births

Etiology

Gene mutations can be found on chromosome 10 (FGFR2) or on chromosome 4 (FGFR3).

General symptoms

The growth seams, or sutures, of the skull fuse prematurely, causing the head to take on an abnormal shape. The eyeballs appear to bulge owing to the shallowness of the eye sockets. The inadequate development of the skull sutures may result in excessive pressure on the brain. Symptoms of this pressure include headaches, vomiting, lack of appetite, and damage to the optic nerve. Hearing impairment may occur. The syndrome varies in severity from mild to very serious.

Orofacial/odontological symptoms

The midline third of the face and the upper jaw are underdeveloped, owing to the disturbance in the growth of the skull sutures. This may affect breathing, swallowing and speech. The palate tends to be high and narrow. Cleft lip and palate are not common, but do occur. The teeth may be crowded, particularly in the upper jaw. The bite may also be open, in the area of the front teeth. The reduced size of the lower jaw may lead to development of an underbite.

Orofacial/odontological treatment

  • In cases of craniofacial deformities, a specialist team will be needed for follow up and treatment.
  • Many individuals with Crouzon syndrome require orthodontic treatment, often in combination with jaw surgery.
  • Early contact with dental services for intensified prophylactic care and oral hygiene information is essential.

Sources

  • The rare disease database of the Swedish National Board of Health and Welfare.
  • The MHC database - The Mun-H-Center database on oral health and orofacial function in rare diseases.
  • The Documentation from the Ågrenska national competence centre for rare diseases.
Updated: 2017-09-12 13:59