Skip to main content
U.S. Department of Health & Human Services
National Institutes of Health
NCATS

COVID-19 is an emerging, rapidly evolving situation.

Get the latest public health information from CDC: https://www.coronavirus.gov (link is external)
Get the latest research information from NIH: https://www.nih.gov/coronavirus (link is external)

National Center for Advancing and Translational Sciences National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences
1-888-205-2311
Menu Search
1-888-205-2311
Menu
  • Home
  • Diseases expand submenu for Diseases
    • Browse A-Z
    • Find Diseases By Category expand submenu for Find Diseases By Category
      • Autoimmune / Autoinflammatory diseases
      • Bacterial infections
      • Behavioral and mental disorders
      • Blood Diseases
      • Chromosome Disorders
      • Congenital and Genetic Diseases
      • Connective tissue diseases
      • Digestive Diseases
      • Ear, Nose, and Throat Diseases
      • Endocrine Diseases
      • Environmental Diseases
      • Eye diseases
      • Female Reproductive Diseases
      • Fungal infections
      • Heart Diseases
      • Hereditary Cancer Syndromes
      • Immune System Diseases
      • Kidney and Urinary Diseases
      • Lung Diseases
      • Male Reproductive Diseases
      • Metabolic disorders
      • Mouth Diseases
      • Musculoskeletal Diseases
      • Myelodysplastic Syndromes
      • Nervous System Diseases
      • Newborn Screening
      • Nutritional diseases
      • Parasitic diseases
      • Rare Cancers
      • RDCRN
      • Skin Diseases
      • Viral infections
    • List of FDA Orphan Drugs
    • GARD Information Navigator
    • FAQs About Rare Diseases
  • Guides expand submenu for Guides
    • Patients, Families and Friends expand submenu for Patients, Families and Friends
      • How to Find a Disease Specialist
      • Tips for the Undiagnosed
      • Support for Patients and Families
      • Tips for Finding Financial Aid
      • Help with Travel Costs
      • How to Get Involved in Research
      • FAQs About Chromosome Disorders
      • Medical and Science Glossaries
    • Healthcare Professionals expand submenu for Healthcare Professionals
      • Caring for Your Patient with a Rare Disease
      • ICD Coding for Rare Diseases
      • FindZebra Diagnosis Assist Tool
    • Researchers expand submenu for Researchers
      • Finding Funding Opportunities
    • Teachers and Students expand submenu for Teachers and Students
      • Teaching Resources
  • News expand submenu for News
    • In The Spotlight
    • News Archive
    • Connect with GARD
    • Media Requests
  • About GARD expand submenu for About GARD
    • Contact GARD
    • About GARD
    • Videos
    • Brochures and Publications
  • En Español expand submenu for En Español
    • Enfermedades
    • Contacte GARD
    • Guías de Información expand submenu for Guías de Información
      • Preguntas Más Frecuentes Sobre Enfermedades Raras
      • Como Encontrar un Especialista en su Enfermedad
      • Consejos Para una Condición no Diagnosticada
      • Consejos Para Pacientes y Familias
      • Consejos Para Obtener Ayuda Financiera Para Una Enfermedad
      • Participe en Estudios de Investigación
      • Preguntas Más Frecuentes Sobre los Trastornos Cromosómicos
    • Sobre GARD
  • Home
© Positive Exposure
banner showing people with disabilities and/or their relatives
  1. Home
  2. Diseases
  3. 22q11.2 deletion syndrome
print
  • Table of Contents expand submenu for Table of Contents
    • Summary
    • Symptoms
    • Cause
    • Inheritance
    • Prognosis
    • Statistics
    • Find a Specialist
    • Related Diseases
    • Research
    • Organizations
    • Living With
    • Learn More
    • GARD Answers
    • References
  • Browse A-Z
  • Find Diseases By Category expand submenu for Find Diseases By Category
    • Autoimmune / Autoinflammatory diseases
    • Bacterial infections
    • Behavioral and mental disorders
    • Blood Diseases
    • Chromosome Disorders
    • Congenital and Genetic Diseases
    • Connective tissue diseases
    • Digestive Diseases
    • Ear, Nose, and Throat Diseases
    • Endocrine Diseases
    • Environmental Diseases
    • Eye diseases
    • Female Reproductive Diseases
    • Fungal infections
    • Heart Diseases
    • Hereditary Cancer Syndromes
    • Immune System Diseases
    • Kidney and Urinary Diseases
    • Lung Diseases
    • Male Reproductive Diseases
    • Metabolic disorders
    • Mouth Diseases
    • Musculoskeletal Diseases
    • Myelodysplastic Syndromes
    • Nervous System Diseases
    • Newborn Screening
    • Nutritional diseases
    • Parasitic diseases
    • Rare Cancers
    • RDCRN
    • Skin Diseases
    • Viral infections
  • List of FDA Orphan Drugs
  • GARD Information Navigator
  • FAQs About Rare Diseases
You can help advance
rare disease research!
You can help advance rare disease research!
toolbox
Find out how with the NCATS Toolkit.

22q11.2 deletion syndrome


Información en español Title


How can we make GARD better? We want to hear from you.
Provide Feedback

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


Listen
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


Listen
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
Decreased body height
Small stature
[ 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
Abnormal thorax morphology
Abnormality of the chest
0000765
Abnormality of dental enamel
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality
[ more ]
0000682
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 retardation
Prenatal growth deficiency
[ 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 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 1/1/2021

Cause Cause


Listen
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


Listen
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


Listen
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


Listen
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
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


Listen

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


Listen

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


Listen

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


Listen

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/
Do you know of an organization? We want to hear from you.

Living With Living With


Listen

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


Listen

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

  • MedlinePlus Genetics 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.

GARD Answers GARD Answers


Listen

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


Have a question? Contact a GARD Information Specialist.

References References


  1. 22q11.2 deletion syndrome. Genetics Home Reference. July, 2013; http://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome.
  2. McDonald-McGinn DM, Emanuel BS, Zackai EH. 22q11.2 deletion syndrome. GeneReviews. February 28, 2013; https://www.ncbi.nlm.nih.gov/books/NBK1523.
  3. 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.
  4. 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.
Do you know of a review article? We want to hear from you.
You can help advance
rare disease research!
You can help advance rare disease research!
toolbox
Find out how with the NCATS Toolkit.

Share this content:

Share this content:

twitter-icon facebook-icon contact-icon link-icons

Copy Link

Link copied to your clipboard.

printer-icon

You May Be Interested In

How to Find a Disease Specialist

How to Find a Disease Specialist

Tips for the Undiagnosed

Tips for the Undiagnosed

Support for Patients and Families

Support for Patients and Families

Tips for Finding Financial Aid

Tips for Finding Financial Aid

Help with Travel Costs

Help with Travel Costs

How to Get Involved in Research

How to Get Involved in Research

FAQs About Chromosome Disorders

FAQs About Chromosome Disorders

Medical and Science Glossaries

Medical and Science Glossaries

Caring for Your Patient with a Rare Disease

Caring for Your Patient with a Rare Disease

ICD Coding for Rare Diseases

ICD Coding for Rare Diseases

FindZebra Diagnosis Assist Tool

FindZebra Diagnosis Assist Tool

Finding Funding Opportunities

Finding Funding Opportunities

Teaching Resources

Teaching Resources

placeholder for the horizontal scroll slider Back to top
GARD Home NCATS Home Site Map Browse Glossary A-Z Privacy Notice Disclaimer Accessibility FOIA OIG

If you have problems viewing PDF files, download the latest version of Adobe Reader

For language access assistance, contact the NCATS Public Information Officer

Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-2311

contact gard Office of Rare Disease Research Facebook Page Office of Rare Disease Research on Twitter
Listen