22q11 deletion syndrome

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

CATCH 22, Di George syndrome, Velocardiofacial syndrome.

ICD-10
Q92.8

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.

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.

 

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).

• 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 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 Newsletter of the Ågrenska Center

Morphological appearance and chemical composition of enamel in primary teeth from patients with 22q11 deletion syndrome.
Oral manifestations in 22q11 deletion syndrome.

Report from Questionnaires.
Report from Observation Chart.