My Baby Was Diagnosed with 22q11.2 Deletion Syndrome (DiGeorge)
Medically reviewed by Dr. Michael Okonkwo, MD, FAAP · Board-Certified Neonatologist
Content reviewed against published NIH, CHOP, NIH guidelines
Last reviewed:
If your baby has been diagnosed with or you suspect was diagnosed with 22q11.2 deletion syndrome (digeorge), here is what the evidence says.
The short answer
22q11.2 deletion syndrome (also known as DiGeorge syndrome or velocardiofacial syndrome) is caused by a small missing piece of chromosome 22 and is the most common microdeletion syndrome, affecting about 1 in 4,000 births. It can affect many body systems — heart, immune system, palate, calcium regulation, learning, and behavior. The severity varies widely, even within the same family. Some children have significant medical needs, while others have mild features. With appropriate monitoring and support, many people with 22q11.2 deletion syndrome lead fulfilling, independent lives.
Key takeaways
- 22q11.2 deletion syndrome (also known as DiGeorge syndrome or velocardiofacial syndrome) is caused by a small missing piece of chromosome 22 and is the most common microdeletion syndrome, affecting about 1 in 4,000 births. It can affect many body systems — heart, immune system, palate, calcium regulation, learning, and behavior. The severity varies widely, even within the same family. Some children have significant medical needs, while others have mild features. With appropriate monitoring and support, many people with 22q11.2 deletion syndrome lead fulfilling, independent lives.
- Usually normal when: Your baby has 22q11.2 deletion syndrome with mild features and is receiving appropriate medical monitoring
- Call your doctor if: Your baby has a seizure — this may be caused by low calcium. Call 911 and inform them of the 22q11.2 diagnosis
- Varies by age — see the age-by-age breakdown below
“Fever itself is not an illness — rather, it is a sign or symptom that the body is fighting an infection. Fever stimulates certain defenses, such as the white blood cells, which attack and destroy invading bacteria.”
Parents everywhere have the same worry. You are doing the right thing by looking into it.
What Parents Should Know
According to NIH, CHOP guidelines, 22q11.2 deletion syndrome (also known as DiGeorge syndrome or velocardiofacial syndrome) is caused by a small missing piece of chromosome 22 and is the most common microdeletion syndrome, affecting about 1 in 4,000 births. It can affect many body systems — heart, immune system, palate, calcium regulation, learning, and behavior. The severity varies widely, even within the same family. Some children have significant medical needs, while others have mild features. With appropriate monitoring and support, many people with 22q11.2 deletion syndrome lead fulfilling, independent lives. At 0-6 months, common findings in infancy include heart defects (particularly interrupted aortic arch, tetralogy of Fallot, and VSD), low calcium levels (hypocalcemia that can cause seizures), immune deficiency (reduced T cells), and feeding difficulties. A cardiac evaluation is a priority. Calcium levels should be monitored closely in the first weeks. If your baby's immune function is reduced, discuss vaccination modifications and infection precautions with your immunologist. Feeding therapy may be needed. It is generally considered normal when your baby has 22q11.2 deletion syndrome with mild features and is receiving appropriate medical monitoring. However, you should contact your pediatrician promptly if your baby has a seizure — this may be caused by low calcium. Call 911 and inform them of the 22q11.2 diagnosis.
Normal vs. Concerning
When to Seek Immediate Care
- Your baby has a seizure — this may be caused by low calcium. Call 911 and inform them of the 22q11.2 diagnosis
- Your baby is turning blue, breathing rapidly, or seems to be in cardiac distress — call 911
- Your baby has a high fever and you know their immune function is compromised — seek immediate medical evaluation
By Age
What to expect by age
0-6 months
Common findings in infancy include heart defects (particularly interrupted aortic arch, tetralogy of Fallot, and VSD), low calcium levels (hypocalcemia that can cause seizures), immune deficiency (reduced T cells), and feeding difficulties. A cardiac evaluation is a priority. Calcium levels should be monitored closely in the first weeks. If your baby's immune function is reduced, discuss vaccination modifications and infection precautions with your immunologist. Feeding therapy may be needed.
6-12 months
After any acute medical issues are managed, developmental monitoring becomes central. Motor delays are common, and early intervention (physical and occupational therapy) is beneficial. Palatal abnormalities — ranging from cleft palate to velopharyngeal insufficiency (air leaking through the nose during speech) — should be evaluated, as they affect feeding and later speech. Hearing should be tested, as ear infections and hearing loss are more common.
1-3 years
Speech and language delays are one of the most consistent features. Speech therapy should begin early. Cognitive development varies widely — many children are in the normal range, while others have mild to moderate intellectual disability. Behavioral concerns may include anxiety, ADHD-like symptoms, and difficulty with social interactions. Autoimmune conditions (such as thyroid disease) may develop and should be monitored.
3 years+
With appropriate educational support, many children with 22q11.2 deletion syndrome succeed in school. Mental health monitoring is important — there is an increased risk of anxiety, ADHD, and later in life, psychotic disorders. Early mental health support is protective. The 22q11.2 Society and other family support organizations can connect you with other families and the latest research. New clinical trials continue to improve care.
What to Tell Your Pediatrician
- Describe when you first noticed was diagnosed with 22q11.2 deletion syndrome (digeorge) and how it has changed over time.
- Note your baby's current age and which age-specific patterns you are seeing.
- Mention if your baby seems to get sick more often than other babies or infections seem more severe — this may indicate immune issues need closer monitoring.
- Mention if your baby is having feeding difficulties, nasal regurgitation, or poor weight gain.
- Let your doctor know if you have noticed any related concerns, such as changes in feeding, sleep, or movement patterns.
- Bring a list of any questions or observations you want to discuss at the appointment.
What Should You Do?
When to take action
- Your baby has 22q11.2 deletion syndrome with mild features and is receiving appropriate medical monitoring
- Your baby's heart defect has been repaired and they are recovering well
- Your child is progressing with therapies, even if at a slower pace than typical peers
- Your baby seems to get sick more often than other babies or infections seem more severe — this may indicate immune issues need closer monitoring
- Your baby is having feeding difficulties, nasal regurgitation, or poor weight gain
- Your child's speech is significantly delayed or sounds very nasal
- Your child seems unusually anxious or is having behavioral difficulties
- Your baby has a seizure — this may be caused by low calcium. Call 911 and inform them of the 22q11.2 diagnosis
- Your baby is turning blue, breathing rapidly, or seems to be in cardiac distress — call 911
- Your baby has a high fever and you know their immune function is compromised — seek immediate medical evaluation
What You Can Do at Home
- Keep track of when you notice was diagnosed with 22q11.2 deletion syndrome (digeorge) — noting the time of day, duration, and any triggers can help your pediatrician.
- Remember that your baby has 22q11.2 deletion syndrome with mild features and is receiving appropriate medical monitoring — this is generally within the range of normal.
- At 0-6 months, focus on observation rather than intervention unless your pediatrician advises otherwise.
- Follow any care instructions from your pediatrician. Keep a written log of symptoms to bring to appointments.
- While monitoring at home, seek immediate care if your baby has a seizure — this may be caused by low calcium. Call 911 and inform them of the 22q11.2 diagnosis.
Related Conditions
My Baby Was Diagnosed with Noonan Syndrome
Noonan syndrome is a genetic condition occurring in about 1 in 1,000-2,500 births, caused by mutations in genes of the RAS-MAPK pathway. It affects multiple body systems and is characterized by distinctive facial features, short stature, heart defects (most commonly pulmonary valve stenosis), and varying degrees of developmental delay. While Noonan syndrome is a lifelong condition, the wide range of severity means that many people with Noonan syndrome lead independent, fulfilling lives. Early intervention and comprehensive medical care significantly improve outcomes.
My Baby Was Diagnosed with CHARGE Syndrome
CHARGE syndrome is a complex genetic condition caused by mutations in the CHD7 gene, occurring in about 1 in 8,500-10,000 births. The name stands for Coloboma (eye defect), Heart defects, Atresia choanae (blocked nasal passages), Retardation of growth/development, Genital underdevelopment, and Ear anomalies/deafness. CHARGE affects many body systems and presents differently in each child. While the medical needs can be significant, especially in the early years, many people with CHARGE syndrome live fulfilling lives with appropriate support. Advances in medical care continue to improve outcomes.
My Baby Was Diagnosed with VACTERL Association
VACTERL association is a condition where a baby is born with a combination of birth defects involving multiple organ systems. The name is an acronym: Vertebral defects, Anal atresia, Cardiac defects, Tracheoesophageal fistula, Renal anomalies, and Limb abnormalities. A diagnosis is typically made when a baby has at least 3 of these features. The cause is unknown in most cases and is usually not inherited. While the initial medical needs can be significant, many VACTERL-associated conditions are surgically correctable, and many children go on to lead healthy, active lives.
Related Resources
Frequently asked questions
Is was diagnosed with 22q11.2 deletion syndrome (digeorge) normal?
When should I call the doctor about was diagnosed with 22q11.2 deletion syndrome (digeorge)?
When is was diagnosed with 22q11.2 deletion syndrome (digeorge) normal?
What causes was diagnosed with 22q11.2 deletion syndrome (digeorge)?
What should I mention to my pediatrician about was diagnosed with 22q11.2 deletion syndrome (digeorge)?
Is was diagnosed with 22q11.2 deletion syndrome (digeorge) normal at 0-6 months?
Is was diagnosed with 22q11.2 deletion syndrome (digeorge) normal at 6-12 months?
Should I go to the ER for was diagnosed with 22q11.2 deletion syndrome (digeorge)?
Does was diagnosed with 22q11.2 deletion syndrome (digeorge) go away on its own?
References
Doctor Visit Checklist
Bring this checklist to your next pediatrician visit to discuss My Baby Was Diagnosed with 22q11.2 Deletion Syndrome (DiGeorge).
Things to mention
- Describe when you first noticed was diagnosed with 22q11.2 deletion syndrome (digeorge) and how it has changed over time.
- Note your baby's current age and which age-specific patterns you are seeing.
- Mention if your baby seems to get sick more often than other babies or infections seem more severe — this may indicate immune issues need closer monitoring.
- Mention if your baby is having feeding difficulties, nasal regurgitation, or poor weight gain.
- Let your doctor know if you have noticed any related concerns, such as changes in feeding, sleep, or movement patterns.
- Bring a list of any questions or observations you want to discuss at the appointment.
Observations to share
- Your baby seems to get sick more often than other babies or infections seem more severe — this may indicate immune issues need closer monitoring
- Your baby is having feeding difficulties, nasal regurgitation, or poor weight gain
- Your child's speech is significantly delayed or sounds very nasal
Urgent signs to report immediately
- Your baby has a seizure — this may be caused by low calcium. Call 911 and inform them of the 22q11.2 diagnosis
- Your baby is turning blue, breathing rapidly, or seems to be in cardiac distress — call 911
- Your baby has a high fever and you know their immune function is compromised — seek immediate medical evaluation
My notes
From ismybabyalright.com — free, evidence-based baby health guides
All content follows our editorial policy and is reviewed against published clinical guidelines.
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Related Resources
Bottom line
Most cases of was diagnosed with 22q11.2 deletion syndrome (digeorge) are normal. Talk to your pediatrician if your baby has a seizure — this may be caused by low calcium. call 911 and inform them of the 22q11.2 diagnosis.
Trust your instincts. If something feels wrong, reach out to your pediatrician. Worrying about your baby means you care — that is a good thing.
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Related Medical Concerns
My Baby Was Diagnosed with Noonan Syndrome
Noonan syndrome is a genetic condition occurring in about 1 in 1,000-2,500 births, caused by mutations in genes of the RAS-MAPK pathway. It affects multiple body systems and is characterized by distinctive facial features, short stature, heart defects (most commonly pulmonary valve stenosis), and varying degrees of developmental delay. While Noonan syndrome is a lifelong condition, the wide range of severity means that many people with Noonan syndrome lead independent, fulfilling lives. Early intervention and comprehensive medical care significantly improve outcomes.
My Baby Was Diagnosed with CHARGE Syndrome
CHARGE syndrome is a complex genetic condition caused by mutations in the CHD7 gene, occurring in about 1 in 8,500-10,000 births. The name stands for Coloboma (eye defect), Heart defects, Atresia choanae (blocked nasal passages), Retardation of growth/development, Genital underdevelopment, and Ear anomalies/deafness. CHARGE affects many body systems and presents differently in each child. While the medical needs can be significant, especially in the early years, many people with CHARGE syndrome live fulfilling lives with appropriate support. Advances in medical care continue to improve outcomes.
My Baby Was Diagnosed with VACTERL Association
VACTERL association is a condition where a baby is born with a combination of birth defects involving multiple organ systems. The name is an acronym: Vertebral defects, Anal atresia, Cardiac defects, Tracheoesophageal fistula, Renal anomalies, and Limb abnormalities. A diagnosis is typically made when a baby has at least 3 of these features. The cause is unknown in most cases and is usually not inherited. While the initial medical needs can be significant, many VACTERL-associated conditions are surgically correctable, and many children go on to lead healthy, active lives.
My Baby's Head Shape Looks Abnormal
Many babies develop temporary head shape irregularities that are completely normal. A cone-shaped head from vaginal delivery reshapes within days. Mild positional flattening (plagiocephaly) from sleeping on the back is very common and usually improves with repositioning and tummy time. However, head shape changes involving ridges, a persistently bulging fontanelle, or rapid head growth changes should be evaluated to rule out craniosynostosis.
Achondroplasia (Dwarfism) in Babies
Achondroplasia is the most common form of short-limbed dwarfism, affecting about 1 in 15,000 to 40,000 births. It is caused by a mutation in the FGFR3 gene and is usually apparent at birth with characteristic features including short limbs, a larger head, and a prominent forehead. Intelligence is normal. With monitoring for specific complications and supportive care, children with achondroplasia lead full, active, and independent lives.
Adenoid Hypertrophy and Breathing
Adenoids are lymphoid tissue located behind the nose that help fight infection in young children. When adenoids become enlarged (adenoid hypertrophy), they can block the nasal airway, causing chronic mouth breathing, snoring, nasal speech, and sleep-disordered breathing. Enlarged adenoids are most common between ages 2-7 and are a leading cause of obstructive sleep apnea in young children. Treatment ranges from watchful waiting and nasal steroids to surgical removal (adenoidectomy) if breathing or sleep is significantly affected.