DiGeorge Syndrome

Types of DiGeorge syndrome
Causes
Common symptoms and signs
Diagnostic tests
Non-pharmacological treatments
Drug treatments
Dietary molecular supplements
Advanced “immunity-focused” and regenerative options
Surgeries
Prevention strategies
When to see a doctor
Foods and habits: what to eat & what to avoid
FAQs

DiGeorge syndrome is a genetic condition that a baby is born with. It happens when a tiny piece of DNA is missing from chromosome 22. Doctors often call it “22q11.2 deletion syndrome.” This missing piece changes how some parts of the embryo develop, especially structures that come from the third and fourth “pharyngeal pouches,” which are early building blocks of the neck and chest. Because of this, the thymus (an immune organ) and the parathyroid glands (which control calcium) may be small or absent. The heart and the large blood vessels that leave the heart may also form differently. The roof of the mouth may not close normally, leading to a cleft palate or speech that sounds nasal. Some children have learning or mental health challenges later in life.

DiGeorge syndrome—also called 22q11.2 deletion syndrome (22q11.2DS)—is a genetic condition. A tiny missing segment on chromosome 22 (at spot “q11.2”) affects how several body systems develop before birth. Because the missing piece influences the thymus (an organ that helps T-cells mature), the parathyroid glands (which control calcium), and parts of the heart, face, and palate, children may have immune problems, low calcium, heart defects, feeding and speech issues, and later learning or behavioral differences. The signs are very different from child to child—some are mild, others are serious. NCBI+1

Chromosomes are like instruction books. When a small section of instructions on chromosome 22 is missing, the body’s “building plan” for the heart, face, thymus, and parathyroids can be incomplete. Most cases happen by chance (de novo). Sometimes the deletion is inherited from a parent who may have mild or unrecognized features. NCBI

Think of it like a blueprint with a small but important page missing. Most of the house still gets built, but certain rooms and wiring do not form the usual way. The result is a repeatable set of issues across many body systems: immunity, calcium balance, heart structure, facial and palate shape, feeding and speech, and development.

DiGeorge syndrome is one of the most common microdeletion conditions. It is estimated to affect roughly 1 in 3,000–6,000 live births. You may also hear the names “velocardiofacial syndrome” (VCFS) or “conotruncal anomaly face syndrome.” These names point to key features—palate/voice (“velo”), heart (“cardio”), and face—seen along the same 22q11.2 deletion spectrum.

What is happening inside the body

During embryo growth, cells that will become the thymus, parathyroid glands, parts of the face, and portions of the heart’s outflow tracts grow from shared early structures. The missing DNA on 22q11.2 includes genes that act like switches and timers for these steps. One important gene is TBX1. With only one working copy (instead of two), the “signals” are weaker. That can lead to a small or absent thymus (fewer T cells and higher infection risk), small parathyroid glands (low calcium and seizures), and heart outflow problems (like tetralogy of Fallot or interrupted aortic arch). Palate muscles and bones may also be affected, which influences feeding and speech.

Types of DiGeorge syndrome

By immune severity (most practical in clinics):
Partial DiGeorge: The thymus is small but present. T-cell counts are low or near-normal, and immunity ranges from mild to moderate problems. Many children do well with routine care and targeted support.
Complete DiGeorge (athymia): The thymus is essentially absent. T-cells are extremely low, and infections can be severe. These children need specialized immune care, and some may be candidates for thymus tissue implantation or other advanced therapies.
By the exact genetic pattern:
Typical 22q11.2 “common” deletion (~3 Mb): The most frequent, removing a standard stretch of genes, including TBX1.
Smaller “nested” 22q11.2 deletion (~1.5 Mb): A shorter missing segment that still affects the same pathway.
Atypical/distal 22q11.2 deletions: Missing DNA further down the region with overlapping features.
Point (single-gene) variants affecting TBX1 or nearby genes (rare): No large deletion, but the key gene’s function is reduced.
DiGeorge-like deletions (e.g., 10p13-14): Not on chromosome 22 but can cause a very similar pattern of thymus, parathyroid, and heart problems.

Causes

DiGeorge syndrome itself is genetic. The “causes” below explain the different genetic ways it can arise and other, rarer reasons a child can have a very similar pattern (DiGeorge-like). I list them separately so you can see how doctors reason about this condition.

Genetic causes on chromosome 22 (most common):

Typical 22q11.2 microdeletion (~3 Mb): The classic cause; usually new in the child (de novo).
Smaller 22q11.2 microdeletion (~1.5 Mb): A shorter missing segment that still disrupts the same pathway.
Atypical/distal 22q11.2 deletion: Missing genes farther along the region with overlapping features.
TBX1 haploinsufficiency within 22q11.2: Losing one working copy of TBX1 lowers the “signal” needed for normal development.
Other critical gene losses within 22q11.2 (e.g., CRKL): Additional genes in the region add to the heart and craniofacial findings.
De novo deletion (not inherited) during egg/sperm formation: A random event; parents typically do not carry it.
Autosomal dominant inheritance from an affected parent: About 5–10% of cases; a parent with a 22q11.2 deletion can pass it to a child.
Unbalanced translocation involving 22q11.2: A parent may carry a balanced rearrangement; the child receives an unbalanced form that deletes 22q11.2.
Mosaic 22q11.2 deletion in the child: The deletion is present in some cells but not all, causing a milder or variable picture.
Ring chromosome 22 with loss of 22q11.2 material (rare): Structural chromosome changes can remove the key region.

Non-22q genetic or DiGeorge-like causes:

10p13-14 deletion (DiGeorge-like syndrome): Removes genes important for thymus/parathyroid development, mimicking DiGeorge.
CHARGE syndrome (CHD7 variants) overlap: Some children with CHARGE can have thymus/parathyroid issues and heart outflow defects.
FOXN1-related thymic aplasia (rare): A different gene that can cause severe T-cell problems (complete DiGeorge-like).
22q11.2 duplication with atypical expression (rare overlap): Not a deletion, but some features can overlap in complex ways.
Other rare copy-number changes affecting pharyngeal pouch signaling: Different chromosomes, similar developmental pathway effects.

Environmental/embryonic disruption with DiGeorge-like features:

Excess retinoic acid exposure in early pregnancy: High doses can disrupt pharyngeal pouch development, causing thymus/parathyroid and heart outflow defects.
Poorly controlled maternal diabetes: Increases risk of congenital heart defects with some DiGeorge-like features.
Fetal alcohol exposure: Can contribute to facial and heart anomalies that resemble parts of the syndrome.
Certain anticonvulsant exposures (e.g., valproate) in early pregnancy: Associated with craniofacial and cardiac anomalies (overlaps only).
Vascular disruptions early in embryo life: Uncommon events that alter arch artery development and mimic heart/outflow anomalies.

Common symptoms and signs

Heart defects at birth: Problems with the outflow tracts (e.g., tetralogy of Fallot, interrupted aortic arch, truncus arteriosus) cause fast breathing, poor feeding, bluish color, or heart failure signs.
Low calcium (hypocalcemia): Due to small parathyroids; can cause jitteriness, muscle cramps, or seizures in newborns or later during stress.
Frequent infections: Due to low or weak T cells from a small or missing thymus; ear, sinus, and chest infections are common.
Nasal-sounding speech or cleft palate: The roof of the mouth may not close fully or the muscles may be weak, making speech sound hypernasal.
Feeding problems in infancy: Poor suck, reflux, choking, or milk through the nose due to palate issues and weak coordination.
Growth concerns: Some children are small for age or gain weight slowly because feeding is hard or heart disease increases energy needs.
Characteristic facial features (often subtle): Hooded eyelids, a broad nasal bridge with a bulbous tip, small chin, and small ears can be present.
Learning and developmental delays: Motor and language milestones may be slower; many children benefit from early therapy.
Speech and resonance problems: Even without a cleft, the palate may not close well against the back of the throat, making speech air escape through the nose.
Hearing problems: Fluid in the middle ear and structural differences increase the risk of temporary or permanent hearing loss.
Kidney differences: Some children have kidney shape or position differences, which can affect urine flow or blood pressure.
Low platelets or autoimmune issues later: The immune system can turn against the body, causing low platelets, thyroid problems, or arthritis.
Behavioral and mental health conditions: Higher risks of ADHD, anxiety, autism features, and—later in adolescence/young adulthood—psychotic disorders.
Bone cramps or tingling with stress/illness: Low calcium can return during illness, surgery, or after heavy exercise.
Breathing or sleep problems: Airway differences and low muscle tone can cause noisy breathing or obstructive sleep apnea.

Diagnostic tests

Below are twenty commonly used tests. I label each one by its category so you can see how they fit together.

Physical exam (bedside observation by the clinician):

Full newborn/child physical exam (Physical Exam): Checks growth, facial shape, palate, muscle tone, and overall health. Identifies clues like nasal speech, ear shape, and feeding effort.
Cardiac auscultation and pulse exam (Physical Exam): Listening for murmurs and checking pulses in arms and legs can suggest outflow tract defects or aortic arch issues.
Head and neck/ENT inspection including palate (Physical Exam): Looks for cleft palate, submucous cleft, bifid uvula, and palate movement problems that affect speech and feeding.
Growth and developmental screening (Physical Exam): Uses age-based checklists to flag motor, language, and social delays that are common in 22q.
Skin, nail, and lymph node exam (Physical Exam): Looks for infection signs, eczema, and lymph node size, which can hint at immune function.

Manual tests (hands-on bedside maneuvers):

Chvostek sign (Manual Test): Tapping the facial nerve triggers cheek twitching if calcium is low; a quick clue to hypocalcemia.
Trousseau sign (Manual Test): Inflating a blood pressure cuff can trigger hand spasm in low calcium; another bedside indicator.
Bedside swallow and suck assessment (Manual Test): A feeding specialist evaluates suck-swallow-breathe coordination to guide feeding safety.
Palatal motion and gag reflex check (“say ah”) (Manual Test): Watching the soft palate lift helps detect velopharyngeal dysfunction.

Laboratory and pathological tests (blood or tissue-based):

Serum total and ionized calcium, magnesium, phosphate (Lab/Path): Confirms low calcium and checks minerals that interact with parathyroid function.
Parathyroid hormone (PTH) level (Lab/Path): Low or inappropriately normal PTH in the setting of low calcium supports hypoparathyroidism.
Newborn screen T-cell receptor excision circles (TRECs) (Lab/Path): A low TREC value suggests low new T-cell output from the thymus.
Lymphocyte subset panel (CD3, CD4, CD8, B, NK) (Lab/Path): Counts T cells and other lymphocytes to grade immune impact.
T-cell function with mitogen proliferation (Lab/Path): Tests how well T cells respond to stimuli; important in moderate to severe cases.
Immunoglobulins and vaccine antibody titers (Lab/Path): Checks IgG, IgA, IgM, and response to shots (e.g., tetanus) to plan safe immunizations.
Chromosomal microarray (CMA) (Lab/Path): First-line genetic test to detect the 22q11.2 deletion and other copy-number changes.
FISH or targeted MLPA/qPCR for 22q11.2 (Lab/Path): Confirms a suspected deletion quickly or clarifies small/atypical changes.
18) Gene sequencing (e.g., TBX1, FOXN1 if indicated) (Lab/Path): Used when CMA is normal but a DiGeorge-like picture remains likely.

Electrodiagnostic tests (electrical activity monitoring):

Electrocardiogram (ECG) (Electrodiagnostic): Looks for rhythm issues that can occur with congenital heart disease or after surgery; also helps pre-op planning.
20) Electroencephalogram (EEG) (Electrodiagnostic): Records brain waves in children with seizures, which can be triggered by low calcium.

Non-pharmacological treatments

Each item explains what it is, its purpose, and how it helps (“mechanism”).

Multidisciplinary care coordination
Purpose: Organize cardiology, immunology, endocrinology, ENT, speech, genetics, and developmental care.
How it helps: Regular, age-based checkups catch problems early (heart, calcium, hearing, learning, mental health). Coordinated guidelines improve outcomes. UC Davis HealthAAP Publications
Early intervention (0–3 years)
Purpose: Boost developmental skills during the brain’s most flexible years.
How: Structured play, caregiver coaching, and daily routines strengthen communication, motor, and social skills.
Speech-language therapy (including resonance/VPI therapy)
Purpose: Improve feeding, speech sounds, and velopharyngeal function.
How: Exercises, pacing, and specialized techniques for VPI and motor planning; close ENT/surgeon collaboration. PMC
Feeding therapy
Purpose: Manage weak suck, nasal regurgitation, and texture aversion.
How: Positioning, specialized nipples, pacing, thickened feeds when prescribed, and oral-motor exercises.
Occupational therapy (OT)
Purpose: Support fine-motor skills, hand strength, self-care, and sensory regulation.
How: Repetitive, graded practice rewires skills; home programs sustain progress.
Physical therapy (PT)
Purpose: Improve posture, strength, balance, and endurance.
How: Task-specific training and gait/mobility work raise participation and reduce fatigue.
Individualized Education Plan (IEP) and learning supports
Purpose: Tailor school demands to a child’s profile (attention, working memory, math, reading).
How: Smaller steps, extra time, visual supports, and frequent feedback close learning gaps over time. UC Davis Health
Behavioral therapy (CBT/ABA-informed supports)
Purpose: Address anxiety, attention, autism-spectrum traits, and emotional regulation.
How: Skill-building and parent coaching reduce problem behaviors and improve coping. UC Davis Health
Audiology care & hearing aids when needed
Purpose: Treat conductive or sensorineural hearing loss.
How: Amplification and middle-ear management protect speech and learning.
ENT care & ear tubes (when indicated)
Purpose: Reduce middle-ear fluid and infections.
How: Ventilation tubes keep the ear aerated, improving hearing and speech development.
Dental/oral health program
Purpose: Prevent cavities and manage enamel or craniofacial differences.
How: Fluoride, sealants, and coordinated orthodontic planning support feeding and speech.
Nutrition planning
Purpose: Maintain growth while protecting calcium and bone health.
How: Age-appropriate calories and protein; calcium- and vitamin-D-rich foods while limiting high-phosphate sodas.
Calcium crisis prevention education
Purpose: Avoid severe low calcium.
How: Teach families to notice early signs (tingling, cramps, jittery baby), follow lab plans, and avoid sudden diet or medication changes that lower calcium. PMC+1
Infection-risk reduction plan
Purpose: Fewer serious infections.
How: Hand hygiene, updated vaccines per immune status, and prompt evaluation for fever; school/daycare plans. PMCAAP Publications
Personalized vaccine planning
Purpose: Maximize protection while staying safe.
How: Immunologist checks T-cell numbers/function; most children can receive routine inactivated vaccines, and many with adequate T-cell function can receive live vaccines safely; decisions are test-guided. PMC+122q11europe.org
Mental health care
Purpose: Treat anxiety, ADHD, mood symptoms, and adolescent psychosis risk.
How: Therapy, school supports, and—when needed—medication monitored by specialists. UC Davis Health
Genetic counseling for the family
Purpose: Explain inheritance and future pregnancy options.
How: Reviews recurrence risk, testing choices, and supports relatives seeking evaluation. NCBI
Social work & family support networks
Purpose: Reduce caregiver stress, coordinate services, and connect to 22q communities.
How: Practical coaching, benefits navigation, and peer support.
Sleep evaluation
Purpose: Detect sleep apnea that worsens behavior and learning.
How: Sleep study, tonsil/adenoid evaluation, and CPAP/surgery if indicated.
Transition planning (teen → adult)
Purpose: Handoff to adult providers and lifelong health maintenance.
How: Organized transfer for cardiology, endocrinology, immunology, mental health, and education/vocation. AAP Publications

Drug treatments

Important: Doses below are typical ranges, not prescriptions. Your clinician adjusts for age, labs, kidney function, and interactions.

Calcium (oral—carbonate or citrate)
Class: Mineral supplement.
Typical dose: Often 40–80 mg/kg/day elemental calcium for infants with hypocalcemia; older children individualized.
When: Daily, divided; urgent IV treatment may be needed for seizures.
Purpose/Mechanism: Replaces missing calcium to stabilize muscles and nerves.
Side effects: Constipation, stomach upset, high calcium if over-treated. PMC
Calcitriol (active vitamin D)
Class: Vitamin D hormone (1,25-dihydroxyvitamin D).
Typical dose: Commonly 0.05–0.25 mcg twice daily in infants; total dose individualized by labs.
When: Daily to keep calcium normal in hypoparathyroidism.
Mechanism: Helps the gut absorb calcium and the kidneys retain it.
Side effects: High calcium/phosphate if the dose is too high. PMC
Magnesium (oral/IV when low)
Class: Essential mineral.
Typical dose: Oral elemental magnesium often 25–50 mg/kg/day divided; IV for severe deficiency.
Purpose/Mechanism: Needed for parathyroid hormone release; correcting Mg helps correct calcium.
Side effects: Diarrhea; caution in kidney disease. PMC
Immunoglobulin replacement (IVIG or SCIG)
Class: Antibody replacement.
Typical dose: IVIG 400–600 mg/kg every 3–4 weeks or SCIG 100–150 mg/kg weekly.
When: For proven antibody deficiency or frequent serious infections.
Mechanism: Provides ready-made antibodies to prevent infections.
Side effects: Headache, infusion reactions; rare thrombosis. PMC
Trimethoprim–sulfamethoxazole (TMP-SMX) prophylaxis
Class: Antibiotic.
Typical dose: 5 mg/kg/day (TMP part) once daily or 3x weekly for PCP prophylaxis in severe T-cell defects (specialist-guided).
Purpose/Mechanism: Prevents Pneumocystis jirovecii pneumonia.
Side effects: Rash, cytopenias, sun sensitivity; avoid with sulfa allergy. PMC
Palivizumab (seasonal RSV prophylaxis)
Class: Monoclonal antibody.
Typical dose: 15 mg/kg IM monthly during RSV season for high-risk infants (e.g., severe heart disease/immune issues).
Mechanism: Passive antibodies block RSV.
Side effects: Injection-site pain, fever. PMC
Antifungal prophylaxis (e.g., fluconazole)
Class: Antifungal.
Typical dose: 3–6 mg/kg/day, specialist-directed in severe immune defects.
Purpose/Mechanism: Prevents candidiasis/systemic fungal disease.
Side effects: Liver enzyme elevations, interactions. PMC
Antiviral prophylaxis (e.g., acyclovir)
Class: Antiviral.
Typical dose: Weight-based; used only when strongly indicated by immune status/exposures.
Mechanism: Inhibits viral replication (e.g., HSV).
Side effects: Nausea, kidney dosing adjustments. PMC
Antiepileptic rescue/maintenance (e.g., levetiracetam)
Class: Antiseizure medicine.
Typical dose: Pediatric weight-based dosing; often used if calcium-related seizures persist or for non-calcium seizures.
Mechanism: Stabilizes neuronal firing; always correct calcium first.
Side effects: Sleepiness, mood changes.
Standard pediatric vaccines (inactivated; live vaccines case-by-case)
Class: Immunizations.
Dose/timing: Per national schedule; live vaccines (MMR/varicella) only if T-cell testing shows adequate function, under immunologist guidance.
Purpose/Mechanism: Trains immunity; herd protection.
Side effects: Typical vaccine reactions; live vaccines deferred if T-cell function is low. PMC+122q11europe.org

Dietary molecular supplements

Always discuss supplements with your clinician, especially if your child has immune problems, kidney disease, or is on calcitriol.

Calcium (dietary or supplement)
Dose: Needs vary by age; many children require supplement amounts individualized by labs.
Function/Mechanism: Builds bone, stabilizes nerves/muscles; essential when parathyroids are small. PMC
Vitamin D3 (cholecalciferol)
Dose: Often 400–1000 IU/day for maintenance in children; higher doses only under medical supervision if deficient.
Function: Supports calcium absorption and bone health.
Mechanism: Converted to active hormone; sometimes calcitriol is used instead for hypoparathyroidism. PMC
Magnesium
Dose: Diet first; supplement dose individualized (commonly 25–50 mg/kg/day elemental if deficient).
Function: Enables parathyroid hormone release; helps maintain calcium levels.
Mechanism: Cofactor for many enzymes. PMC
Omega-3 fatty acids (EPA/DHA)
Dose: Commonly 250–500 mg/day EPA+DHA for older children (diet first).
Function: May support heart and neurodevelopmental health.
Mechanism: Anti-inflammatory effects on cell membranes.
Zinc
Dose: Often 5–10 mg/day elemental (short courses if low).
Function: Supports immune function and wound healing.
Mechanism: Cofactor for immune enzymes.
Iron (only if iron-deficient)
Dose: Typical pediatric 3 mg/kg/day elemental (with vitamin C), guided by labs.
Function: Improves anemia, energy, and development.
Mechanism: Needed for hemoglobin and brain development.
Selenium (low-dose)
Dose: Around 10–20 mcg/day depending on age/diet.
Function: Antioxidant enzyme support; thyroid function.
Mechanism: Part of glutathione peroxidases.
Iodine (dietary)
Dose: Age-appropriate RDA through iodized salt/food; avoid extra pills unless prescribed.
Function: Thyroid hormone production; monitor because thyroid issues can occur.
Probiotics
Dose: Product-specific; avoid in severe T-cell immunodeficiency due to infection risk.
Function: Gut support in selected children with normal T-cell function.
Mechanism: Microbiome modulation. (Discuss with immunology.)
Multivitamin (age-appropriate)
Dose: Per label.
Function: Fills small dietary gaps.
Mechanism: Broad micronutrient coverage.

Advanced “immunity-focused” and regenerative options

In 22q11.2DS, true regenerative therapies are limited. Below are the real options and how they work. We are transparent where evidence is strong vs. limited.

RETHYMIC® (allogeneic processed thymus tissue-agdc)
Type: One-time, FDA-approved thymus tissue therapy for congenital athymia (complete absence of thymus), which can include a subset of “complete” DiGeorge.
Dose/how given: Surgical implantation of prepared donor thymus tissue slices; one procedure.
Function/mechanism: Provides thymic epithelium so the child can develop naïve T-cells over months.
Notes/risks: Specialized centers; requires immune monitoring.
Evidence: FDA approval 2021 for immune reconstitution in pediatric congenital athymia. U.S. Food and Drug Administration+1rethymic.com
Hematopoietic stem cell transplant (HSCT)
Type: Stem-cell therapy (bone marrow/cord/peripheral).
When considered: Select situations with combined immunodeficiency features; outcomes are limited if the child lacks thymic tissue, because T-cells still need a thymus to mature.
Mechanism: Replaces immune cell precursors; benefit depends on thymic function.
Risks: Graft-versus-host disease, infections; highly specialized decision. PMC
Immunoglobulin replacement (IVIG/SCIG)
Type: Passive immunity; not regenerative, but a “hard booster” for antibody protection when humoral immunity is weak.
Mechanism: Supplies broad antibodies to prevent infections; dosing as above. PMC
Palivizumab (RSV monoclonal) during infancy
Type: Passive immunization in high-risk infants.
Mechanism: Antibody blocks RSV entry; reduces severe RSV disease. PMC
Targeted antimicrobial prophylaxis (TMP-SMX/antifungals/antivirals)
Type: Preventive medications for specific high-risk immune states.
Mechanism: Lowers the chance of severe opportunistic infections while immunity is weak. PMC
Investigational approaches (research only)
Examples: Strategies to enhance thymopoiesis or cytokine signaling.
Status: No approved gene therapy or thymic hormone pill for 22q11.2DS at this time; participation is via clinical trials. Do not use unproven stem-cell products outside trials. PMC

Surgeries

Congenital heart surgery
What: Repair of defects such as tetralogy of Fallot or interrupted aortic arch.
Why: Improves oxygen delivery and survival; often done in infancy. PMC
Palate/VPI surgery (e.g., Furlow palatoplasty, pharyngeal flap)
What: Surgical correction of cleft palate or soft-palate function.
Why: Reduces nasal speech, improves swallowing, prevents ear problems; combined with SLP therapy. PMC
Thymus tissue implantation (RETHYMIC)
What: One-time operation to implant processed thymus tissue in congenital athymia.
Why: To enable T-cell development and reduce life-threatening infections. U.S. Food and Drug Administration
Ear tubes (tympanostomy)
What: Tiny tubes placed in eardrums.
Why: Prevents fluid buildup and recurrent infections to protect hearing and speech.
Other structural surgeries (as needed)
What: Procedures for airway, kidney, or skeletal anomalies.
Why: To restore function and prevent long-term complications. Orpha.net

Prevention strategies

Follow the personalized vaccine plan set by immunology (inactivated for all; live only if T-cell tests say it’s safe). PMC+1
Hand hygiene & sick-contact precautions at home, daycare, and school. PMC
Seasonal RSV prevention (palivizumab for eligible infants; avoid crowded indoor exposures). PMC
Prompt fever plan: when to call, when to go to the ED, and which labs to draw.
Calcium safety plan: keep lab appointments, take calcium/calcitriol exactly as prescribed, learn early signs of low calcium. PMC
Dental care to reduce infection risk (brushing, fluoride, dental checkups).
Nutrition and growth monitoring (dietitian input for calcium, vitamin D, protein).
Hearing checks and ear care to protect language development.
Mental health screening (anxiety, ADHD, mood changes) with early therapy. UC Davis Health
Written school/IEP plan so teachers know health and learning supports. UC Davis Health

When to see a doctor

Immediately/ED: Blue or labored breathing; a seizure; high fever with unusual sleepiness; dehydration; a newborn who is very irritable, twitchy, or hard to wake (possible low calcium); any infant under 3 months with fever. PMC
Urgent appointment: New or frequent infections, poor weight gain, feeding refusal, persistent vomiting, worsening constipation, sudden behavior change, or new learning regression.
Routine follow-up: Regular visits with cardiology, immunology, endocrinology, ENT/audiology, speech/OT/PT, dentistry, and developmental/mental health—based on the age-specific schedules in expert recommendations. AAP Publications

Foods and habits: what to eat & what to avoid

What to eat (choose often):

Calcium-rich foods: milk/yogurt/cheese (or fortified dairy alternatives), tofu set with calcium, leafy greens.
Vitamin-D sources: fortified milk, eggs, oily fish (age-appropriate).
Protein-rich foods: beans, lentils, eggs, poultry, fish, lean meats to support growth.
Whole grains and fruits/vegetables: energy and fiber for regular bowels.
Fluids: water to prevent dehydration, especially during fevers.

What to limit/avoid (reason):

High-phosphate sodas (can worsen calcium balance).
Unpasteurized milk/cheese and raw/undercooked meats/eggs (infection risk in immunocompromised states).
Buffet/cross-contaminated foods during outbreaks or peak respiratory seasons (reduce exposure).
Megadose supplements without lab guidance (risk of high calcium with vitamin D/calcitriol).
Live probiotic products if T-cell function is severely low (ask immunology first).

FAQs

Is DiGeorge syndrome the same as 22q11.2 deletion syndrome?
Yes. DiGeorge, velocardiofacial syndrome, and several older names are now grouped as 22q11.2 deletion syndrome because the same missing DNA piece causes them. PMC
Did we do something to cause it?
No. Most cases happen by chance at conception. Sometimes a parent carries the same deletion with mild signs. A genetic counselor can explain testing for relatives. NCBI
Will my child’s immunity get better?
Many children have partial T-cell problems that improve with time; others have more serious defects. Immune tests guide vaccines and infection prevention plans. PMC
Can my child get vaccines?
Almost always yes for inactivated vaccines. Live vaccines (MMR/varicella) are given only if T-cell tests are adequate; studies show they are well-tolerated in appropriately screened children. PMC
What about COVID-19 and flu shots?
These are inactivated vaccines and are generally recommended; your immunologist will tailor timing and boosters. PMC
Why does my newborn have low calcium?
Small parathyroid glands make too little hormone to balance calcium. Calcium and vitamin D (often calcitriol) correct this and prevent seizures. PMC
My child has many ear infections—normal for 22q?
Yes, middle-ear disease is common due to palate and immune differences. ENT care, ear tubes, and dental/speech care help. PMC
Is a thymus transplant available?
For children with congenital athymia (complete lack of thymus), RETHYMIC is FDA-approved and available in specialized centers. It helps the body make T-cells. U.S. Food and Drug Administration
Is bone-marrow transplant (HSCT) a cure?
HSCT is not a routine cure for classic DiGeorge because T-cells still need a thymus to mature. It’s considered only in select cases. PMC
Will my child need heart surgery?
Only if a heart defect is present. Many do very well after repair and routine follow-up. PMC
Why is speech therapy so important?
Palate differences and VPI can make speech nasal and feeding tricky. Early SLP care improves clarity and safety; some children also need surgery. PMC
What school supports help most?
An IEP with smaller steps, extra time, visuals, and help for working memory/attention usually helps children progress. UC Davis Health
Are anxiety or ADHD part of 22q?
These are more common and respond to early behavioral therapy and, if needed, medications monitored by specialists. UC Davis Health
Can adults with 22q live independently?
Many do, with supports suited to their strengths and challenges. Lifelong follow-up protects heart, calcium, immune, dental, hearing, and mental health. AAP Publications
Where can families find reliable information and community?
Major children’s hospitals and 22q organizations provide care pathways and family support groups. (Ask your team for local resources.) Boston Children’s Hospital

Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.

The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members

Last Updated: August 17, 2025.

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