The following report from the MHC-database is based on the latest version of the Mun-H-Center Observation Chart that has been in use since 2008. Please note, that this report exclude children younger than 3 years.
Reports based on the original forms (1996-2008) are presented at the bottom of this page - below the description of the diagnosis
Estimated occurrence
4:100 000 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 diseases database of the Swedish National Board of Health and Welfare.
The MHC database - The database of Mun-H-Center on orofacial manifestations associated with rare diseases.
The Newsletter of the Ågrenska Center.
