Dentistry Issues in 22q11.2 Deletion Syndrome

Among the health issues associated with 22q11.2 deletion syndrome (aka DiGeorge syndrome), dental problems are frequently observed, and they can significantly impact the quality of life for affected individuals.

Dental Anomalies

One of the most common dental problems is hypodontia, the congenital absence of teeth, both primary and permanent. Hypodontia is a major concern as it can lead to issues with biting, chewing, and overall oral function. It may also complicate the development of normal speech patterns and facial aesthetics.

Delayed eruption of teeth is also frequently observed. Children with 22q11.2 deletion syndrome may experience a delay in the appearance of both primary and permanent teeth, which can result in malocclusions, or misalignments of the teeth and bite. This delay can further complicate dental care and affect the timing of orthodontic intervention.

Cleft Palate and Craniofacial Abnormalities

The high incidence of cleft palate and other craniofacial anomalies can lead to difficulties with the development of a normal dental arch. A cleft palate can complicate dental hygiene and orthodontic care. Early surgical repair and regular dental monitoring are essential to address these challenges.

Enamel Hypoplasia

Enamel hypoplasia is particularly common in individuals with 22q11.2DS and often manifests in childhood. It refers to the incomplete or defective formation of tooth enamel, which is crucial for protecting teeth against decay and wear. When enamel is thin, discolored, or pitted, it leaves the teeth vulnerable to a variety of dental complications. Several factors contribute to enamel hypoplasia in 22q11.2DS.

The deletion often impacts the development of dental tissues during tooth formation, leading to weaker enamel. Enamel hypoplasia is often associated with dental abnormalities such as missing teeth, malformed roots, and delayed eruption of teeth which can be the result of defective craniofacial development. Patients with 22q11.2DS often experience immune system deficiencies and disruptions in calcium metabolism, which may exacerbate enamel formation problems.

Environmental factors such as malnutrition or frequent illness during childhood can further impair enamel formation. Fever, infections, and nutritional deficiencies, particularly a lack of vitamin D or calcium, can contribute to enamel hypoplasia. 

Managing enamel hypoplasia in 22q11.2DS requires a comprehensive dental care plan that focuses on prevention and treatment. Families and caregivers as well as individuals with 22q11.2DS should be educated about the importance of oral hygiene, including brushing with fluoride toothpaste, flossing, and regular dental visits to reduce the risk of tooth decay and gum disease.

In some cases, dentists may recommend the use of dental sealants or the application of topical fluoride. For individuals with significant enamel defects, restorative treatments such as crowns, fillings, or veneers may be necessary to protect the affected teeth. In some cases, patients with 22q11.2DS may also require orthodontic treatment due to misaligned or poorly developed teeth.

Early intervention is essential for ensuring proper alignment and bite function.

Periodontal Issues

Individuals with 22q11.2 deletion syndrome may also be more prone to periodontal disease. The immunodeficiency often seen in this population, coupled with challenges in maintaining proper oral hygiene due to motor skill deficits or cognitive delays, can contribute to gingival inflammation, gum infections, and eventual tooth loss if not managed properly.