What Is DiGeorge Syndrome? A Plain-Language Guide to the Condition Caused by a Missing Piece of Chromosome 22
Updated: 3 days ago
Medically reviewed by Dr. Baraa Alnahhal, MD · Last reviewed: October 17, 2026
Quick Answer
DiGeorge syndrome, or 22q11.2 deletion syndrome, is a genetic condition in which a small piece of chromosome 22 covering an estimated 30 to 40 genes is missing, so several body systems develop poorly. Early signs include heart defects, cleft palate, feeding trouble and frequent infections. There is no cure, but treatment can fix critical problems and manage ongoing needs. [1] [2] [6]
What the Research Says
Most children have several body systems affected. In a Finnish nationwide registry study of 100 children with 22q11.2 deletion syndrome, 73.8% had congenital heart defects, 21.8% had a cleft palate, 13.6% had low calcium, and 7.2% had a recorded immunodeficiency. 92.9% had infections and 93.2% had neuropsychiatric or developmental issues during follow-up. (Wahrmann et al., Acta Paediatr, 2023) [4]
Heart defects are the most common serious feature. A review reported that approximately 60-80% of patients have a cardiac malformation, most often conotruncal defects such as tetralogy of Fallot and truncus arteriosus. Heart surgery is not generally riskier in terms of death, but more peri-operative complications occur than in children without the syndrome. (Goldmuntz, Am J Med Genet C Semin Med Genet, 2020) [5]
Care is guided by expert consensus. The 22q11.2 Society updated its pediatric guidelines after identifying 2,441 relevant publications, 1,545 of which applied to the care of children and adolescents; because the evidence is limited, many recommendations are consensus statements of good practice. (Óskarsdóttir et al., Genet Med, 2023) [6]
What Is DiGeorge Syndrome?
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a condition caused when a small part of chromosome 22 is missing. This deletion causes several body systems to develop poorly. [1]
A chromosome is a strand of DNA that carries genes, the instructions for how the body grows and works. Each person has two copies of chromosome 22, one inherited from each parent. In a child with this syndrome, one copy is missing a segment that includes an estimated 30 to 40 genes.
The name 22q11.2 deletion syndrome now covers several terms that were once thought to be different conditions. These include DiGeorge syndrome and velocardiofacial syndrome. They share the same missing piece of chromosome 22, though features may vary slightly. [2]
What Are the Symptoms of DiGeorge Syndrome?
DiGeorge syndrome symptoms vary with the body systems affected and can include heart problems, frequent infections, facial and palate differences, feeding problems and low calcium. Some symptoms are clear at birth, but others may not appear until later in infancy, as a young child, or even as an adult. The most common symptom groups are:
Heart: problems with the structure of the heart and blood vessels, a heart murmur, or bluish skin (cyanosis) from poor blood circulation. [2]
Immune system: frequent infections. [3]
Face and mouth: an underdeveloped chin, differently shaped ears, wide-set or hooded eyes, an enlarged nose tip, and a gap in the roof of the mouth (cleft palate) or other palate problems.
Feeding and growth: a hard time feeding, failure to gain weight, or stomach problems.
Ears and eyes: hearing loss, poor vision, and other eye problems.
Muscles and bones: poor muscle tone and scoliosis (a curved spine).
Kidneys: kidney problems.
Calcium: low levels of calcium in the blood. [1]
Other symptoms may include delayed growth, delayed infant milestones such as rolling over and sitting up, delayed or nasal-sounding speech, learning delays or disabilities, and behavioral problems.
One distinctive sign is called asymmetric crying facies. This happens when muscles on one side of the mouth do not develop fully, so that side of the mouth droops when the baby cries, even though the face looks balanced at rest.
When Should You See a Doctor?
Other conditions can cause symptoms like those of 22q11.2 deletion syndrome, so it is important to get the right diagnosis quickly if your child shows any of the symptoms listed above.
Healthcare professionals may suspect the syndrome at birth if a severe heart problem, a cleft palate, or other typical signs are clear. In that case, tests will likely be done before the child leaves the hospital. The condition may also become clear over time at regularly scheduled well-baby visits or annual checkups.
What Causes DiGeorge Syndrome?
DiGeorge syndrome happens when one of a child's two copies of chromosome 22 is missing a segment, known as 22q11.2, usually through a random event but sometimes inherited. If a child has DiGeorge syndrome, one copy is missing a segment that includes an estimated 30 to 40 genes. Many of these genes have not been clearly identified and are not well understood. The region that is deleted is known as 22q11.2. There are two ways this happens:
A random event (most common): the deletion usually occurs as a random event in the father's sperm or the mother's egg, or it may occur early while the baby is developing. [2]
Inherited (less common): the deletion is passed to a child from a parent who also has a deletion in chromosome 22, often with fewer or milder symptoms. If a parent has the deletion, each pregnancy has a 50% chance of passing it on. [2]
In most cases, nothing the parents did caused the deletion. It is not a result of parenting choices or anything that happened during pregnancy.
Who Is Most at Risk?
Babies who are missing a portion of chromosome 22, specifically the 22q11.2 region, are most at risk of DiGeorge syndrome. Because the deletion usually happens randomly when a baby is conceived, the syndrome can appear in families with no history of it. If a parent does carry the deletion, there is a chance of passing it to a child, which is why genetic counseling is helpful for future pregnancies.
What Complications Can It Cause?
The missing portion of chromosome 22 affects the development of several body systems, so the condition can cause several errors during fetal development.
Heart problems
DiGeorge syndrome often causes heart problems that can lead to too little oxygen-rich blood reaching the body. [5] For more on how these defects form and are repaired, see Congenital Heart Defects in Children and Congenital Heart Disease (CHD).
Ventricular septal defect (VSD): a hole between the lower heart chambers (right and left ventricles) that lets oxygen-rich blood move back into the lungs instead of being pumped to the body.
Truncus arteriosus: only one large vessel comes out of the heart instead of two, usually with a VSD; oxygen-rich and oxygen-poor blood mix and do not carry enough oxygen for the body.
Tetralogy of Fallot: a combination of four heart changes: a VSD, narrowing along the pathway to the lungs (pulmonary stenosis), a misplaced main artery (aorta), and a thickened lower right heart chamber wall.
Low calcium (hypoparathyroidism)
Four tiny parathyroid glands in the neck regulate the levels of calcium and phosphorus in the body. DiGeorge syndrome can make these glands smaller than usual and produce too little parathyroid hormone. This leads to low calcium and high phosphorus in the blood. [1]
A weakened immune system
The thymus gland sits beneath the breastbone. It is where T cells, a type of white blood cell, mature, and mature T cells help fight infections. In children with 22q11.2 deletion syndrome, the thymus may be small or missing, leading to poor immune function and frequent, severe infections. [3] To learn how the body's defenses work, see The Human Immune System.
Other complications
Cleft palate: an opening in the roof of the mouth, with or without a cleft lip; less visible palate problems can make swallowing hard or distort certain speech sounds.
Facial features: small, low-set ears, narrow eye openings, hooded eyes, a long face, an enlarged nose tip, or a short or flattened groove in the upper lip.
Learning and behavior: delays in brain development and function; toddler speech delays and difficulty learning are common; some children develop ADHD or autism spectrum disorder; later in life, the risk of depression and anxiety is higher.
Autoimmune conditions: a greater risk of conditions such as rheumatoid arthritis or Graves' disease. In the Finnish study, 29.6% of children were diagnosed with an autoimmune disease during follow-up. [4]
Hearing, eyes, kidneys: hearing problems, eye problems, and poor kidney function.
How Is DiGeorge Syndrome Diagnosed?
Diagnosis is based primarily on a lab test that can detect the deletion in chromosome 22. A child's healthcare professional will likely order this test if the child has a mix of medical problems suggesting the syndrome, or a heart problem, because certain heart problems are commonly related to 22q11.2 deletion syndrome. [2] Experts recommend screening for the deletion in children with tetralogy of Fallot, truncus arteriosus, interrupted aortic arch type B, or certain other heart defects. [5]
In some cases, a child may have a mix of conditions that suggest the syndrome, but the lab test does not show a missing portion of chromosome 22.
How Is DiGeorge Syndrome Treated?
DiGeorge syndrome has no cure, and no single treatment can reverse the condition itself. However, treatments usually can correct critical problems such as a heart problem or a cleft palate, and other health issues, as well as developmental, mental health, or behavioral problems, can be dealt with or watched as needed.
Low calcium (hypoparathyroidism): calcium and vitamin D supplements as directed; sometimes other supplements.
Heart problems: most require surgery soon after birth to repair the heart and improve the supply of oxygen-rich blood.
Limited thymus function: infections are usually colds and ear infections, treated as in any child; most children follow the usual vaccination schedule, and immune function often improves with age. [3] Immunology guidelines note that practice varies widely, so vaccination decisions should be made with an immunologist. [7]
Severe thymus dysfunction: a transplant of thymus tissue, specialized cells from bone marrow, or specialized disease-fighting blood cells may be needed. [3]
Cleft palate: usually repaired by surgery.
Overall development: speech therapy, occupational therapy, and developmental therapy; in the U.S., early intervention programs are usually available through a state or county health department.
Mental health: treatment if a child is later diagnosed with ADHD, autism spectrum disorder, depression, or another mental health or behavioral condition.
Other conditions: management of feeding and growth issues, hearing or vision problems, and other medical conditions.
Who Will Be on the Care Team?
Because the syndrome can lead to so many problems, several specialists will likely help diagnose specific conditions, recommend treatments, and provide care. The team changes as the child's needs change. A structured multidisciplinary approach is considered necessary. [4]
Pediatrician: children's health specialist who coordinates care.
Geneticist: expert in inherited conditions.
Cardiologist and cardiovascular surgeon: diagnose and correct heart problems.
Immunologist and infectious diseases specialist: manage immune function and infection risk.
ENT (ear, nose, and throat) specialist: hearing and airway concerns.
Endocrinologist: manages calcium and parathyroid problems.
Oral and maxillofacial surgeon: fixes conditions such as a cleft palate.
Occupational, speech, and developmental therapists: build everyday skills, speech, and age-appropriate behaviors.
Mental health professional: a pediatric psychiatrist or psychologist.
How Can Parents Prepare for Doctor Appointments?
The syndrome may be suspected at birth, in which case tests and treatment will likely begin before the child leaves the hospital. The healthcare professional will look for developmental problems at regular checkups, so it is important to keep all well-baby visits and annual appointments.
Questions parents can ask include: What tests will be needed, and when will we get the results? What specialists will my child be referred to? Which medical conditions need to be dealt with now, and which is most important? How will you help me watch for problems with my child's health and development? What educational materials, local support services, and early childhood development services are available?
Expect the doctor to ask whether the baby has feeding problems, seems listless or weak, is reaching milestones such as rolling over, sitting up, crawling, walking, and speaking, and whether any behaviors are concerning.
Conclusion
DiGeorge syndrome is a genetic condition caused by a missing piece of chromosome 22, and it touches the heart, immune system, palate, calcium balance, and development all at once. The good news is that modern care can correct the most critical problems and support children through the rest. Surgery fixes many heart defects and cleft palates, supplements manage low calcium, therapies build speech and daily skills, and a changing team of specialists walks alongside the family for years. The single most important step is an early, accurate diagnosis.
Talk to a specialist. If your child has a severe heart defect, a cleft palate, frequent infections, or feeding trouble, ask your doctor about testing for 22q11.2 deletion syndrome, and ask for referrals to the specialist team and early intervention programs that can make the biggest difference.
Frequently Asked Questions
What is the difference between DiGeorge syndrome and 22q11.2 deletion syndrome?
DiGeorge syndrome and 22q11.2 deletion syndrome are the same condition. DiGeorge syndrome, velocardiofacial syndrome, and a few other older terms all describe the same missing piece of chromosome 22. The name 22q11.2 deletion syndrome now covers all of them, and features may vary slightly from child to child. [2]
How common is DiGeorge syndrome?
MedlinePlus estimates about 1 in 4,000 people, and notes it may be underdiagnosed [1]. The American Heart Association gives a range of about 1 in 4,000 to 1 in 7,000 births [2]. A 2020 review estimated 1 in 4,000 to 6,000 live births [5].
How many genes are missing in DiGeorge syndrome?
The deleted segment on chromosome 22 includes an estimated 30 to 40 genes. Many of these genes have not been clearly identified and are not well understood.
Does DiGeorge syndrome cause a weak immune system?
DiGeorge syndrome can. The thymus gland, where infection-fighting T cells mature, may be small or missing. In partial DiGeorge syndrome, T cell function is low but not absent and often improves in childhood, while complete DiGeorge syndrome (no thymus) causes severe T cell deficiency. [3]
What heart problems are linked to DiGeorge syndrome?
The most common are a ventricular septal defect (a hole between the lower heart chambers), truncus arteriosus (one large blood vessel instead of two leaving the heart), and tetralogy of Fallot (four structural heart problems together). Most of these need surgery soon after birth. [5]
Why does DiGeorge syndrome cause low calcium?
The four parathyroid glands in the neck control calcium and phosphorus levels. The missing chromosome segment can make these glands smaller than usual, so they produce too little parathyroid hormone, leading to low calcium and high phosphorus in the blood. Calcium and vitamin D supplements usually manage this.
How is DiGeorge syndrome diagnosed?
Diagnosis is based primarily on a lab test that detects the missing segment on chromosome 22. Genetic testing, usually a chromosomal microarray, can confirm it. [2] Doctors order this test when a child has a mix of symptoms suggesting the syndrome or a heart problem commonly linked to it.
Can a parent pass DiGeorge syndrome to their child?
Yes, though this is the less common route. Most cases come from a random event before birth, but a parent who carries the deletion can pass it on, and the American Heart Association states each pregnancy then has a 50% chance of passing it on. [2] A geneticist or genetic counselor can help with family planning.
Can symptoms first appear in adulthood?
Yes. Some symptoms are clear at birth, but others may not appear until later in infancy, as a young child, or even as an adult. International guidelines now exist for managing adults with the condition as well as children. [6] [8]
How often do children with DiGeorge syndrome have infections?
In a Finnish nationwide registry study of 100 children, 92.9% had infections during follow-up, although only 7.2% were recorded as having an immunodeficiency. [4]
Is there a cure for DiGeorge syndrome?
There is no cure, but treatment can correct critical problems such as heart defects and a cleft palate, and the many other health, developmental, and mental health needs can be treated or monitored. Specialist teams provide care that changes as the child grows.
Related Reading on Rinnit.com
Congenital Heart Defects in Children: Symptoms, Causes, and Treatment: how structural heart problems develop before birth and how they are treated.
Congenital Heart Disease (CHD): Types, Symptoms, Treatment & Survival: a complete guide to the heart conditions most often linked to this syndrome.
The Human Immune System: Your Body's Defense Network: how the thymus and T cells protect the body.
References
MedlinePlus, National Library of Medicine. 22q11.2 deletion syndrome. MedlinePlus. Last updated December 1, 2019. https://medlineplus.gov/genetics/condition/22q112-deletion-syndrome/
American Heart Association. 22q11.2 Deletion Syndrome (DiGeorge Syndrome and Velo-Cardio-Facial Syndrome). American Heart Association. Last reviewed July 30, 2026. https://www.heart.org/en/health-topics/congenital-heart-defects/about-congenital-heart-defects/22q112-deletion-disorders-digeorge-syndrome-and-velocardiofacial-syndrome
American Academy of Allergy, Asthma & Immunology. DiGeorge Syndrome (DGS) Symptoms, Diagnosis & Treatment. AAAAI. June 17, 2026. https://www.aaaai.org/conditions-treatments/primary-immunodeficiency-disease/digeorge-syndrome
Wahrmann S, et al. Childhood manifestations of 22q11.2 deletion syndrome: A Finnish nationwide register-based cohort study. Acta Paediatr. 2023;112(6):1312-1318. PMID 36867048. https://doi.org/10.1111/apa.16737
Goldmuntz E. 22q11.2 deletion syndrome and congenital heart disease. Am J Med Genet C Semin Med Genet. 2020;184(1):64-72. PMID 32049433. https://doi.org/10.1002/ajmg.c.31774
Óskarsdóttir S, et al. Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome. Genet Med. 2023;25(3):100338. PMID 36729053. https://doi.org/10.1016/j.gim.2022.11.006
Mustillo PJ, et al. Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development. J Clin Immunol. 2023;43(2):247-270. PMID 36648576. https://doi.org/10.1007/s10875-022-01418-y
Boot E, et al. Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome. Genet Med. 2023;25(3):100344. PMID 36729052. https://doi.org/10.1016/j.gim.2022.11.012
Medical disclaimer
This article is for general educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always consult a qualified healthcare provider about any medical condition, testing, or treatment decisions for you or your child. Only a licensed clinician can interpret genetic test results and create an individualized care plan.
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