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22q11-deletion syndrome

Reports from the MHC data base

Report from the questionnaire (PDF)
Report from the Observation Chart (PDF) 


Di George syndrome, Velocardiofacial syndrome, CATCH 22


ICD-10: D82.1
ORPHA: 567

Estimated occurrence

1:4 000 live births


Chromosomal deletion of a small amount of material on the long arm (q) of chromosome 22.  Autosomal dominant heredity. In most cases the 22q11-deletion syndrome is a spontaneous mutation.

General symptoms

C    Cardiac defect, various congenital cardiac malformations
A    Abnormal faces, deviant facial features
T    Thymic hypoplaisa/aplasia, very small thymus gland or none at all, increased risk of infection
C    Cleft palate, most commonly covert (submucous) clefting
H    Hypocalcemia, calcium deficiency attributable to poorly functioning or absent  parathyroid glands
22   deletion of chromosomal material on chromosome 22

Other malformations including deformity of the kidneys, clubfoot, hearing and vision problems as well as behavioral aberrations and learning difficulties may occur. There are varying combinations of symptoms, as well as a substantial variation in degree of severity.

Orofacial/odontological symptoms

Certain facial features are characteristic for the diagnosis. Hypernasal speech is a very common problem. Eating disorder may occur. Aberrations in tooth mineralisation taking the form of spotting or pitting of the tooth enamel are common. Deformed teeth, known as peg shaped teeth, and occasional missing tooth buds are more frequent than in healthy individuals. Delayed dental development is also often found. An increased incidence of lingua geografica and a tendency to bleed easily from the oral mucousa have been reported, as well as poor oral hygiene, frequent caries and gingivitis (inflamed gums).

Orofacial/odontological treatment

  • It is important that these children come in early contact with the dental services for extra preventive dental care and information about oral hygiene. Frequent infections, poor nutrition, and poorly mineralized enamel all increase the risk of caries.
  • X-ray to determine the presence of tooth buds may be needed around the age of 7 to 9.
  • An orthodontist should be consulted between the ages of 7 and 9 in order to identify dental aberrations or malocclusions and to plan any necessary orthodontic treatment.
  •  In cases of defective palate, a specialist team will be needed for follow up and treatment.
  • When treating medically compromised patients always contact their doctors for medical advice (bleeding problems, heart diseases etc).
  • Feeding and swallowing difficulties are investigated and treated by a specialist team at the hospital or multidisciplinary treatment center


  • The rare diseases 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 13:27