Medical ConditionsImmune & periodontal: DiGeorge syndrome

DiGeorge syndrome

Also called: 22q11.2 deletion syndrome; velocardiofacial syndrome

Overview

Board takeaway: Confirm cardiac anatomy, immune function, and calcium control before invasive care or anesthesia; coordinate enamel and palate care.

How does DiGeorge syndrome affect dental management?

Cardiology: name the lesion and repair status; endocarditis prophylaxis only for qualifying lesions
Immunology: confirm the degree of immune deficiency, infection history, and any prescribed antimicrobial precautions. If transfusion is anticipated, the immunology/transfusion team determines requirements for irradiated and infection-safe blood products.
Before GA: Check calcium control before GA; hypocalcemia can cause seizures and arrhythmias
Prevention and palate: Intensive prevention for hypoplastic enamel; coordinate palatal and speech surgery with the cleft team

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System	Clarify before care
Cardiac	Exact defect, repair/residual disease, and independent qualifying valve/conduit or IE history.
Immune	Degree of deficiency, infection history, and procedure-specific antimicrobial precautions.
Calcium	Control of hypocalcemia before GA; seizures and arrhythmias are possible.
Palate/enamel	Team timing, speech needs, and intensified prevention for structural defects.

Exam pearl

What is DiGeorge syndrome?

A chromosome 22q11.2 deletion disorder with variable cardiac defects, palatal abnormalities, immune deficiency, and hypocalcemia.

What are the main systemic features of DiGeorge syndrome?

Genetics: 22q11.2 deletion (~1 in 4,000): the most common microdeletion syndrome; mostly de novo, autosomal dominant when inherited
Recognition: CATCH-22: Cardiac defects, Abnormal facies, Thymic hypoplasia, Cleft palate, Hypocalcemia
Cardiac: Conotruncal heart defects: tetralogy of Fallot, interrupted aortic arch, truncus arteriosus, VSD
Calcium: hypoparathyroidism with hypocalcemia (tetany, seizures)
Immune function: T-cell deficiency ranges from mild to absent thymus
Development: Learning disability, speech delay, and later anxiety and psychiatric illness

What oral findings occur in DiGeorge syndrome?

Cleft palate, submucous cleft, bifid uvula, velopharyngeal insufficiency with hypernasal speech
Enamel hypoplasia and hypomineralization (hypocalcemia during tooth formation); high caries risk
Hypodontia and delayed eruption; recurrent candidiasis with T-cell deficiency

A child with 22q11.2 deletion had tetralogy of Fallot repaired five years ago with no residual defect. Is infective endocarditis prophylaxis indicated for an extraction?

Not for a completely repaired defect alone at five years.

Confirm: no residual defect and no independent qualifying condition.
Check specifically: a prosthetic pulmonary valve or conduit, other prosthetic valve/repair material, or previous endocarditis.
Separate decisions: the syndrome itself does not indicate IE prophylaxis; immune-deficiency precautions are assessed separately.

Sources

How does DiGeorge syndrome affect dental management?

Cardiology: name the lesion and repair status; endocarditis prophylaxis only for qualifying lesions

Immunology: confirm the degree of immune deficiency, infection history, and any prescribed antimicrobial precautions. If transfusion is anticipated, the immunology/transfusion team determines requirements for irradiated and infection-safe blood products.

Before GA: Check calcium control before GA; hypocalcemia can cause seizures and arrhythmias

Prevention and palate: Intensive prevention for hypoplastic enamel; coordinate palatal and speech surgery with the cleft team

Scroll across to view all columns

System	Clarify before care
Cardiac	Exact defect, repair/residual disease, and independent qualifying valve/conduit or IE history.
Immune	Degree of deficiency, infection history, and procedure-specific antimicrobial precautions.
Calcium	Control of hypocalcemia before GA; seizures and arrhythmias are possible.
Palate/enamel	Team timing, speech needs, and intensified prevention for structural defects.

What are the main systemic features of DiGeorge syndrome?

Genetics: 22q11.2 deletion (~1 in 4,000): the most common microdeletion syndrome; mostly de novo, autosomal dominant when inherited

Recognition: CATCH-22: Cardiac defects, Abnormal facies, Thymic hypoplasia, Cleft palate, Hypocalcemia

Cardiac: Conotruncal heart defects: tetralogy of Fallot, interrupted aortic arch, truncus arteriosus, VSD

Calcium: hypoparathyroidism with hypocalcemia (tetany, seizures)

Immune function: T-cell deficiency ranges from mild to absent thymus

Development: Learning disability, speech delay, and later anxiety and psychiatric illness

A child with 22q11.2 deletion had tetralogy of Fallot repaired five years ago with no residual defect. Is infective endocarditis prophylaxis indicated for an extraction?

Not for a completely repaired defect alone at five years.

Confirm: no residual defect and no independent qualifying condition.

Check specifically: a prosthetic pulmonary valve or conduit, other prosthetic valve/repair material, or previous endocarditis.

Separate decisions: the syndrome itself does not indicate IE prophylaxis; immune-deficiency precautions are assessed separately.