Nevada Medical Home Portal - 22q11.2 Deletion Syndrome

Introduction

Here you’ll find answers to some of the questions that parents often have about this condition. Additional resources are listed at the bottom of the page. Diagnosis and management information can be found in the 22q11.2 Deletion Syndrome module, which is written for primary care clinicians but also may be of help to parents and family members.

What is 22q11.2 deletion syndrome and what causes it?

22q11.2 deletion syndrome is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs most often as a random event during the formation of reproductive cells or in early fetal development. In about 10% of cases, a child inherits the deletion in chromosome 22 from a parent. In inherited cases, other family members may be affected as well. Because of the wide variety of presentations, different subsets of the syndrome were given different names such as DiGeorge syndrome, velocardiofacial syndrome (VCFS), or Shprintzen syndrome; yet, they have turned out to be due to 22q11.2 deletion. Once thought to be an uncommon diagnosis, prevalence is now estimated at 1 in 4,000. [McDonald-McGinn: 2011]

What are the symptoms of 22q11.2 deletion syndrome?

Individuals with this syndrome may have a range of presentations and the manifestations may vary among affected individuals within the same family. Common presentations include learning problems, congenital heart disease (particularly conotruncal malformations), palatal abnormalities, hypocalcemia, feeding problems, gastroesophageal reflux, chronic otitis media, developmental delay/cognitive problems (especially in the areas of expressive language), dental problems due to enamel deficiency, characteristic facial features, and immune dysfunction. Less common symptoms may include skeletal problems, hearing loss, eye abnormalities, and growth hormone deficiency.

How is it diagnosed?

Though clinical findings were previously used to make the diagnosis of the various conditions caused by 22q11.2 deletion, the diagnosis is now based on genetic testing.

What is the prognosis?

22q11.2 is a lifelong condition. Prognosis will depend on what aspects of the condition are present in the individual. Many therapies and medical interventions are available to help address symptoms. The earlier these symptoms are detected, the more doctors can do to help. Ask your child's primary care clinician for more information.

What is the risk for other family members and future babies?

If your child with 22q11.2 deletion syndrome inherited the mutation, any future children would have a 50% chance of also having 22q11.2 deletion syndrome. However, as the majority of presentations are sporadic, future children may have no increased risk. Ask your child's doctor or a genetic counselor for an individualized answer.

What treatments/therapies/medications are recommended or available?

Treatment will depend on the clinical problems exhibited by your child. Often your primary care clinician will recommend involving specialists to help diagnose and treat specific problems. Specialist may include a pediatric geneticist, otolaryngologist, cardiologist, endocrinologist, ophthalmologist, and/or psychologist. An Early Intervention Part C Program would be particularly helpful for children ages 0-35 months who are at risk for, or are demonstrating, developmental delays. Services may include visits by therapists (physical, occupational, speech, vision, etc.) and specific programming for a disability. Families can indoctrinate socialization strategies to help their child develop positive peer relationships and self-esteem.

How will my child and our family be impacted?

The impact of 22q11.2 deletion syndrome will depend on the degree that your child is affected. Early in life, the focus tends to be on acute medical problems, including heart disease, frequent infections, feeding problems, and those associated with palatal dysfunction. Delays in the achievement of developmental milestones deserve identification and attention. After the child reaches school age, the focus shifts to cognitive and behavioral problems. Even children with mild clinical manifestations may need close developmental monitoring and increased support for education as they become older.

I have a daughter with 22q11.2 deletion syndrome who has significant learning problems. She recently told me that she was pregnant. Will she have children with similar problems?

Details should be discussed with a geneticist or genetic counselor. In general, offspring of an individual with this syndrome have a 50/50 chance of having the syndrome themselves. Cardiovascular physiology changes significantly with pregnancy and women with 22q11.2 deletion syndrome may benefit from prenatal or early intrapartum consultation by cardiology. Prenatal testing can determine if the child has the syndrome. If testing is positive, your daughter should be followed during her pregnancy by a perinatologist and a prenatal geneticist to enable health care providers to anticipate any problems that may arise. Your daughter's child might be born with a serious cardiac problem that could be anticipated with adequate prenatal ultrasound.

Resources

Information & Support

Where can I go for further information?

For Parents and Patients

Support

22q11.2 Deletion Syndrome Foundation
Research, resources, and information for families with children who have 22q11.2 deletion syndrome.

Velo-Cardio-Facial Syndrome Education Foundation
An international, not-for-profit organization providing support and information to individuals who are affected by Velo-Cardio-Facial syndrome, their families, physicians, and other practitioners.

General

22q11.2 Deletion Syndrome (Genetics Home Reference)
Excellent, detailed review of condition for patients and families; U.S. National Library of Medicine.

Velocardiofacial Syndrome (Genome.gov)
Medical information, educational materials, and a link to the genetic and rare disease information center; National Human Genome Research Institute.

Velocardiofacial Syndrome (OMIM)
Extensive review of 22q11.2 deletion syndrome with detailed information about the genetics of the condition; Online Mendelian Inheritance in Man.

22q11.2 Deletion Syndrome Educational Videos (MIND)
Three videos about 22q11.2 deletion syndrome that cover early childhood and adolescence; University of California at Davis Medical Investigation of Neurodevelopmental Disorders Institute.

22q11.2 Deletion Syndrome (GARD)
Links to informational resources, scientific conferences, clinical trials, etc. A "Have Questions" link allows users to submit questions to scientific experts; Genetic and Rare Diseases Information Center.

Chromosome 22q11.2 Deletion Syndrome (NORD)
Overview of the syndrome and its symptoms, causes, and related disorders, along with a list of related organizations; National Organization for Rare Disorders.

22q11.2 Deletion Syndrome (GeneReviews)
An expert-authored, peer-reviewed, current disease description that applies genetic testing to diagnosis and management information; sponsored by the U.S. National Center for Biotechnology Information, U.S. National Library of Medicine.

22q11.2 Resources - Birth to 5 Years (International 22q11.2 Foundation)
Includes information for families about typical developmental skills, early intervention, expectations at school, coordinating care, and associated behaviors.

Genetics in Primary Care Institute (AAP)
The goal of this site is to increase collaboration in the care of children with known or suspected genetic disorders. It includes health supervision guidelines and other useful resources; represents a collaboration among the Health Resources & Services Administration, the Maternal and Child Health Bureau, and the American Academy of Pediatrics.

Services

Developmental Pediatrics

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Early Childhood Education/Preschool

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Early Intervention for Children with Disabilities/Delays

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Genetics, Prenatal

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Pediatric Immunology/Rheumatology

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Pediatric Ophthalmology

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Pediatric Orthopedics

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Pediatric Otolaryngology

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Pediatric Plastic Surgery

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Psychiatrist, Child-18 (MD)

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Psychologist, Child-18 (PhD, PsyD)

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School Districts

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Speech - Language Pathologists

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For other services related to this condition, browse our Services categories or search our database.

Studies

22q11.2 Deletion Syndrome (ClinicalTrials.gov)

Authors & Reviewers

Initial Publication: October 2012; Last Update: January 2016

Current Authors and Reviewers (click on name for bio):

Authoring history

(Limited detail is available on authoring dates before 2014.)

^AAuthor; ^CAContributing Author; ^SASenior Author; ^RReviewer

Page Bibliography

McDonald-McGinn DM, Sullivan KE.
Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
Medicine (Baltimore). 2011;90(1):1-18. PubMed abstract