22q11.2 deletion syndrome

Información en español Title

Other Names:

Chromosome 22q11.2 deletion syndrome; Velocardiofacial syndrome; VCFS; Chromosome 22q11.2 deletion syndrome; Velocardiofacial syndrome; VCFS; DiGeorge syndrome; Shprintzen syndrome; Sedlackova syndrome; CATCH22; Autosomal dominant Opitz G/BBB syndrome; Conotruncal anomaly face syndrome; Cayler cardiofacial syndrome See More

Categories:

Chromosome Disorders; Congenital and Genetic Diseases; Digestive Diseases; Chromosome Disorders; Congenital and Genetic Diseases; Digestive Diseases; Ear, Nose, and Throat Diseases; Endocrine Diseases; Heart Diseases; Immune System Diseases; Kidney and Urinary Diseases; Mouth Diseases; Nervous System Diseases See More

This disease is grouped under:

T cell immunodeficiency primary

Summary Summary

22q11.2 deletion syndrome is a disorder that involves many different areas of the body and can vary greatly in severity among people with the condition. Signs and symptoms may include: cleft palate, heart defects, recurrent infections, unique facial characteristics, feeding problems, kidney abnormalities, hypoparathyroidism, thrombocytopenia, scoliosis, hearing loss, developmental delay, and learning disabilities. People with this condition are also more likely to develop certain autoimmune disorders and personality disorders. 22q11.2 deletion syndrome is caused by a deletion of a small part of chromosome 22 near the middle of the chromosome at a location known as q11.2. In most cases, the syndrome occurs for the first time in the affected person; about 10% of cases are inherited from a parent. It is inherited in an autosomal dominant manner. Although there is no specific treatment or cure, there can be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person’s symptoms.^[1]^[2]

Last updated: 5/1/2017

Symptoms Symptoms

The signs and symptoms of 22q11.2 deletion syndrome vary greatly from person to person, even among affected people in the same family. The most common symptoms include:^[2]

Heart defects (74% of individuals)
Abnormalities with the development of the palate (69% of individuals)
Characteristic facial features (elongated face, almond-shaped eyes, wide nose, and small ears)
Learning difficulties (70-90% of individuals)
Immune system problems (77% of individuals)

Additional symptoms may include:^[2]

Low levels of calcium (50% of individuals)
Significant feeding problems
Kidney anomalies (31% of individuals)
Hearing loss
Issues with the development of the larynx, trachea, and esophagus (laryngotracheoesophageal anomalies)
Growth hormone deficiency
Autoimmune disorders (thrombocytopenia, juvenile rheumatoid arthritis, overactive thyroid)
Seizures
Skeletal abnormalities (extra fingers, toes, or ribs, wedge-shaped spinal bones, craniosynostosis)
Psychiatric illness
Eye abnormalities (ptosis, coloboma, cataract, and strabismus)
Central nervous system abnormalities

Developmental delay, intellectual disability, and learning differences are also common in individuals with 22q11.2 deletion syndrome. Individuals may also have an autism spectrum disorders. Psychiatric illness, attention deficit disorder, anxiety, repetitive behaviors, and difficulty with social interactions are also common.^[2]

Last updated: 5/1/2017

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 126 |

Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormal aortic arch morphology		0012303
Abnormal pulmonary valve morphology		0001641
Abnormality of the pharynx		0000600
Atrial septal defect	An opening in the wall separating the top two chambers of the heart Hole in heart wall separating two upper heart chambers [ more ]	0001631
Bulbous nose		0000414
Cleft palate	Cleft roof of mouth	0000175
Conductive hearing impairment	Conductive deafness Conductive hearing loss [ more ]	0000405
Dysphasia		0002357
Epicanthus	Eye folds Prominent eye folds [ more ]	0000286
Hypoplasia of the thymus	Small thymus	0000778
Immunodeficiency	Decreased immune function	0002721
Low-set ears	Low set ears Lowset ears [ more ]	0000369
Muscular hypotonia	Low or weak muscle tone	0001252
Nasal speech	Nasal voice	0001611
Platybasia		0002691
Prominent nasal bridge	Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ]	0000426
Telecanthus	Corners of eye widely separated	0000506
Tetralogy of Fallot		0001636
Truncus arteriosus		0001660
Upslanted palpebral fissure	Upward slanting of the opening between the eyelids	0000582
Ventricular septal defect	Hole in heart wall separating two lower heart chambers	0001629
Wide nasal bridge	Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ more ]	0000431
30%-79% of people have these symptoms
Abnormality of the tonsils		0100765
Acne		0001061
Arachnodactyly	Long slender fingers Spider fingers [ more ]	0001166
Attention deficit hyperactivity disorder	Attention deficit Attention deficit disorder Attention deficit-hyperactivity disorder Attention deficits Childhood attention deficit/hyperactivity disorder [ more ]	0007018
Carious teeth	Dental cavities Tooth cavities Tooth decay [ more ]	0000670
Chronic otitis media	Chronic infections of the middle ear	0000389
Constipation		0002019
Corneal neovascularization	New blood vessel formation in cornea	0011496
Global developmental delay		0001263
Hypocalcemia	Low blood calcium levels	0002901
Hypoparathyroidism	Decreased parathyroid hormone secretion	0000829
Impaired T cell function	T-cell dysfunction	0005435
Intellectual disability, mild	Mental retardation, borderline-mild Mild and nonprogressive mental retardation Mild mental retardation [ more ]	0001256
Long face	Elongation of face Increased height of face Increased length of face Vertical elongation of face Vertical enlargement of face Vertical overgrowth of face [ more ]	0000276
Long philtrum		0000343
Malar flattening	Zygomatic flattening	0000272
Myalgia	Muscle ache Muscle pain [ more ]	0003326
Occipital myelomeningocele		0007271
Overfolded helix	Overfolded ears	0000396
Posterior embryotoxon		0000627
Ptosis	Drooping upper eyelid	0000508
Renal hypoplasia	Small kidneys Underdeveloped kidneys [ more ]	0000089
Seborrheic dermatitis		0001051
Short neck	Decreased length of neck	0000470
Short stature	Small stature Decreased body height [ more ]	0004322
Small earlobe	Small earlobes	0000385
Specific learning disability		0001328
Tetany	Intermittent involuntary muscle spasm	0001281
Thin upper lip vermilion	Thin upper lip	0000219
5%-29% of people have these symptoms
Abnormal aortic valve morphology		0001646
Abnormal lung lobation		0002101
Abnormality of dental enamel	Abnormal tooth enamel Enamel abnormalities Enamel abnormality [ more ]	0000682
Abnormality of the thorax	Abnormality of the chest	0000765
Abnormality of the uterus	Uterine abnormalities Uterine malformations [ more ]	0000130
Aganglionic megacolon	Enlarged colon lacking nerve cells	0002251
Anal atresia	Absent anus	0002023
Anxiety	Excessive, persistent worry and fear	0000739
Arrhinencephaly		0002139
Arthritis	Joint inflammation	0001369
Asthma		0002099
Atelectasis	Partial or complete collapse of part or entire lung	0100750
Autism		0000717
Autoimmunity	Autoimmune disease Autoimmune disorder [ more ]	0002960
Bipolar affective disorder	Bipolar disorder	0007302
Bowel incontinence	Loss of bowel control	0002607
Cataract	Clouding of the lens of the eye Cloudy lens [ more ]	0000518
Choanal atresia	Blockage of the rear opening of the nasal cavity Obstruction of the rear opening of the nasal cavity [ more ]	0000453
Cholelithiasis	Gallstones	0001081
Chronic pulmonary obstruction		0006510
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
Depressivity	Depression	0000716
Downslanted palpebral fissures	Downward slanting of the opening between the eyelids	0000494
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Feeding difficulties in infancy		0008872
Foot polydactyly	Duplication of bones of the toes	0001829
Gastroesophageal reflux	Acid reflux Acid reflux disease Heartburn [ more ]	0002020
Gastrointestinal hemorrhage	Gastrointestinal bleeding	0002239
Glaucoma		0000501
Hand polydactyly	Extra finger	0001161
Hydrocephalus	Too much cerebrospinal fluid in the brain	0000238
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Hypertensive crisis		0100735
Hyperthyroidism	Overactive thyroid	0000836
Hypopigmented skin patches	Patchy loss of skin color	0001053
Hypospadias		0000047
Hypothyroidism	Underactive thyroid	0000821
Inguinal hernia		0000023
Intestinal malrotation		0002566
Intrauterine growth retardation	Prenatal growth deficiency Prenatal growth retardation [ more ]	0001511
Joint hyperflexibility	Joints move beyond expected range of motion	0005692
Laryngomalacia	Softening of voice box tissue	0001601
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Microphthalmia	Abnormally small eyeball	0000568
Multiple renal cysts	Multiple kidney cysts	0005562
Multiple suture craniosynostosis		0011324
Narrow mouth	Small mouth	0000160
Obesity	Having too much body fat	0001513
Optic atrophy		0000648
Patellar dislocation	Dislocated kneecap	0002999
Patent ductus arteriosus		0001643
Polycystic kidney dysplasia		0000113
Polyhydramnios	High levels of amniotic fluid	0001561
Purpura	Red or purple spots on the skin	0000979
Retinal arteriolar tortuosity		0001136
Schizophrenia		0100753
Scoliosis		0002650
Seizure		0001250
Short philtrum		0000322
Splenomegaly	Increased spleen size	0001744
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
Talipes equinovarus	Club feet Club foot Clubfeet Clubfoot [ more ]	0001762
Thrombocytopenia	Low platelet count	0001873
Tricuspid atresia		0011662
Turricephaly	Tall shaped skull Tower skull shape [ more ]	0000262
Umbilical hernia		0001537
Varicose veins		0002619
Vesicoureteral reflux		0000076
1%-4% of people have these symptoms
Behavioral abnormality	Behavioral changes Behavioral disorders Behavioral disturbances Behavioral problems Behavioral/psychiatric abnormalities Behavioural/Psychiatric abnormality Psychiatric disorders Psychiatric disturbances [ more ]	0000708
Deeply set eye	Deep set eye Deep-set eyes Sunken eye [ more ]	0000490
Highly arched eyebrow	Arched eyebrows Broad, arched eyebrows High, rounded eyebrows High-arched eyebrows Thick, flared eyebrows [ more ]	0002553
Pointed chin	Pointy chin Small pointed chin Witch's chin [ more ]	0000307
Smooth philtrum		0000319
Underdeveloped nasal alae	Underdeveloped tissue around nostril	0000430

Showing of 126 |

Last updated: 7/1/2020

Cause Cause

22q11.2 deletion syndrome is caused by a missing piece (deletion) of part of chromosome 22 in each cell. The deletion occurs near the middle of the chromosome on the q arm at a location known as q11.2.

Most people with 22q11.2 deletion syndrome are missing a piece of chromosome 22 that contains about 30 to 40 genes, many of which have not been well characterized; however, some people have smaller deletions. Researchers are working to learn more about all of the genes that contribute to the features of 22q11.2 deletion syndrome. The deletion of a particular gene, TBX1, is thought to be responsible for many of the syndrome's characteristic signs and symptoms. Loss of this gene may also contribute to behavioral problems. The loss of another gene, COMT, may also cause increased risk of behavioral problems and mental illness. The other genes that are deleted likely contribute to the various features of 22q11.2 deletion syndrome.^[1]

Last updated: 5/1/2017

Inheritance Inheritance

Most cases of 22q11.2 deletion syndrome are not inherited from a parent and are caused by a random error during the formation of egg or sperm cells, or during early fetal development. In about 10% of cases, the deletion is inherited from a parent with the deletion.^[1]

When the deletion is inherited, it is inherited in an autosomal dominant pattern.^[1] This means that having the deletion in only one copy of chromosome 22 in each cell is enough to cause features of the condition. There is nothing that either parent can do, before or during a pregnancy, to cause a child to have this condition.

When a person with a deletion that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that deletion.

Last updated: 5/1/2017

Prognosis Prognosis

There is a wide range of symptoms and severity among people with 22q11.2 deletion syndrome. The long-term outlook for each person depends on the specific signs and symptoms each individual has.

Factors that may impact the severity of the disease and the likelihood for a shortened lifespan include whether or not a congenital heart defect is present and how severe the defect is, as well as the severity of immune system problems. For instance, individuals with complete absence of the thymus gland and absent T cells may pass away prematurely.^[3]^[4]

Last updated: 5/1/2017

Statistics Statistics

It is estimated that between 1 in 4,000 and 1 in 6,395 individuals have 22q11.2 deletion syndrome. It is suspected that 22q11.2 deletion is more common than previously reported given how much symptoms can vary and the likelihood that some individuals remain undiagnosed.^[2]

Last updated: 5/1/2017

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes Smith-Lemli-Opitz syndrome, CHARGE syndrome, Alagille syndrome, VATER syndrome, Goldenhar syndrome and isotretinoin embryopathy (see these terms). Visit the Orphanet disease page for more information.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to 22q11.2 deletion syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with 22q11.2 deletion syndrome. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

Registries for 22q11.2 deletion syndrome:
European Society for Immunodeficiencies (ESID) Registry

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

22q Foundation Australia & New Zealand
E-mail: https://www.22q.org.au/contact-us
Website: https://www.22q.org.au/
Chromosome 22 Central - US Office
7108 Partinwood Drive
Fuquay-Varina, NC 27526
Telephone: 919-567-8167
E-mail: usinfo@c22c.org
Website: http://www.c22c.org
Chromosome Disorder Outreach (CDO)
PO Box 724
Boca Raton, FL 33429
Telephone: +1-561-395-4252
E-mail: https://chromodisorder.org/contact/
Website: https://chromodisorder.org/
International DiGeorge / VCF Support Network
c/o Family Voices of New York
46 1/2 Clinton Avenue
Cortland, NY 13045
Telephone: 607-753-1621 (day); 607-753-1250 (evening)
Fax: 607-758-7420
The 22q11 Group
PO Box 1302
Milton Keynes MK13 0LZ
United Kingdom
Telephone: +44 1908 320 852
E-mail: 22q11@melcom.cix.co.uk
The International 22q11.2 Foundation Inc.
PO Box 532
Matawan, NJ 07747
Telephone: 877-739-1849
E-mail: info@22q.org
Website: http://www.22q.org
Unique – Rare Chromosome Disorder Support Group
G1, The Stables
Station Road West
Surrey
RH8 9EE
United Kingdom
Telephone: +44 (0)1883 723356
E-mail: info@rarechromo.org
Website: https://www.rarechromo.org/

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Education Resources

The Genetics Education Materials for School Success (GEMSS) aims to assure that all children with genetic health conditions succeed in school-life. Their Web site offers general and condition-specific education resources to help teachers and parents better understand the needs of students who have genetic conditions.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on 22q11.2 deletion syndrome. This website is maintained by the National Library of Medicine.
The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
The International 22q11.2 Deletion Syndrome Foundation, Inc. provides support, resources, and information for 22q11.2 deletion syndrome

In-Depth Information

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss 22q11.2 deletion syndrome. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

Bassett AS, McDonald-McGinn DM, Devriendt K, et al. Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome. The Journal of pediatrics. 2011;159(2):332-9.e1. doi:10.1016/j.jpeds.2011.02.039.
Fung WLA, Butcher NJ, Costain G, et al. Practical guidelines for managing adults with 22q11.2 deletion syndrome. 2015;17(8):599-609. doi:10.1038/gim.2014.175.

News & Events News & Events

News

NIH-Supported Research Survey to Examine Impact of COVID-19 on Rare Diseases Community
May 22, 2020
NCATS Translational Approach Addresses COVID-19
May 21, 2020

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

My daughter was diagnosed with VCFS when she was about 3 yrs old. I've read lots of info on the subject and have joined some VCFS Facebook pages. Some of the parents have said that their child died from the syndrome. What is the likelihood that this will happen? And is there something I should be aware of to prevent death? See answer
I frequently feel faint and have passed out. Is this related to having this syndrome? I am overweight and find it hard to lose. Also, if I tried for another child, would it have the syndrome too? My daughter has it. See answer
I am confused with some articles on types of DiGeorge syndrome: What is complete vs partial DiGeorge syndrome? Is there any difference regarding heterozyous / homozygous deletion? See answer
My son has 22q11.2 deletion syndrome (velocardiofacial syndrome) and was recently diagnosed with thyroid problems. He was treated with calcium. Why? Since he started his calcium he has been having seizures that seem to be triggered by intense emotion. Why? Does his condition affect his central nervous system? How can we treat his seizures? Now that he has seizures could he be classified as having a condition other than 22q11.2 syndrome? See answer

References References

22q11.2 deletion syndrome. Genetics Home Reference. July, 2013; http://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome.
McDonald-McGinn DM, Emanuel BS, Zackai EH. 22q11.2 deletion syndrome. GeneReviews. February 28, 2013; https://www.ncbi.nlm.nih.gov/books/NBK1523.
McDonald-McGinn, Donna M. and Sullivan, Kathleen E. Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome). Medicine. January 2011; 90(1):1-18. https://www.ncbi.nlm.nih.gov/pubmed/21200182.
Bassett AS, Chow EWC, Husted J, et al. Premature death in adults with 22q11.2 deletion syndrome. J Med Genet. May, 2009; 46(5):324-330. https://www.ncbi.nlm.nih.gov/pubmed/19246480. Accessed 4/17/2014.

You can help advance
rare disease research! You can help advance rare disease research!

Find out how with the NCATS Toolkit.