22q11.2 Deletion Syndrome: VCFS and DiGeorge Syndrome

Author: Thomas C. Weiss
Published: 16 Feb 2013 - Updated: 25 Jun 2026
Publication Type: Informative

Table of Contents:
Synopsis - Definition - Introduction - Main - Insights, Updates - Related Content

Synopsis: This information explains 22q11.2 deletion syndrome, the condition behind several historically separate diagnoses including velo-cardio-facial syndrome (VCFS), DiGeorge syndrome, and Shprintzen syndrome, all traced to the loss of a small piece of chromosome 22. It is useful because it draws together the clinical picture - facial differences, conotruncal heart defects, immune deficiency from thymus problems, and low blood calcium from parathyroid issues - and connects each to its underlying cause, while outlining how the syndrome is identified and managed. For families, caregivers, seniors, and people living with disabilities, the article offers a clear reference on inheritance risk, the role of FISH testing in confirming a diagnosis, and why coordinated care from cardiology, immunology, and speech specialists matters across the lifespan.*

At a Glance

• 1 - The deletion occurs in roughly 1 in every 3,000 to 4,000 births.
• 2 - Anyone carrying the deletion has a 50 percent chance of passing it to a child.
• 3 - About 90 percent of affected people are missing genes at the chromosome 22 q11 region, an area that holds around 30 genes.

Topic Definition: 22q11.2 Deletion Syndrome

22q11.2 deletion syndrome is a genetic disorder caused by the loss of a small segment of chromosome 22 at the q11.2 location, an area containing roughly 30 genes whose absence disrupts the normal development of several body structures. It is the umbrella term for conditions once described separately as velo-cardio-facial syndrome, DiGeorge syndrome, Shprintzen syndrome, and others, since more than 90 percent of people with those clinical features share the same deletion. Typical effects include congenital heart defects, immune system weakness linked to an underdeveloped or absent thymus, low blood calcium from underactive parathyroid glands, palatal and facial differences, and developmental or learning challenges, though the range and severity vary widely from one person to the next.

Introduction

22q11.2 deletion syndrome, which has several presentations including DiGeorge syndrome (DGS), DiGeorge anomaly, velocardiofacial syndrome, Shprintzen syndrome, conotruncal anomaly face syndrome, Strong syndrome, congenital thymic aplasia, and thymic hypoplasia, is a syndrome caused by the deletion of a small piece of chromosome 22.

Velo-cardio-facial syndrome (VCFS) is a form of genetic condition that is related to DiGeorge syndrome and involves a similar chromosome abnormality as DiGeorge syndrome. VCFS has varying conditions present in each person with the syndrome. Conditions that are common to the syndrome include effects on a person's facial appearance, certain heart defects, as well as a lock of or under-developed parathyroid and thymus glands. DiGeorge syndrome presents the same clinical features as VCFS, although a person must have immune system deficiencies associated with a lack of a thymus gland to be considered to have true DiGeorge syndrome.

Main Content

Some History of Velo-Cardio-Facial and DiGeorge Syndromes

An endocrinologist by the name of Angelo DiGeorge, M.D. in the mid-1960's recognized that a certain group of clinical features often times occurred together. The features include the following:

• Cleft Lip and/or Palate
• Hypoplastic Thymus or Absent Thymus: A condition that results in issues with a person's immune system.
• Conotruncal Heart Defects: Such as tetralogy of Fallot, ventricular septal defects, interrupted aortic arch, or vascular rings.
• Hypoparathyroidism: Hypoparathyroidism is an under-active parathyroid gland that results in hypocalcemia, or low blood calcium levels in the person affected.

A speech pathologist named Robert Shprintzen, PhD. In the 1970's, described a group of people with similar clinical features to include cleft lip and/or palate, absent or hypoplastic thymus, and conotruncal heart defects. Some of the people also had hypocalcemia. Dr. Shprintzen name the group of features, 'Velo-Cardio-Facial syndrome,' yet the syndrome was also referred to as, 'Shprintzen syndrome.'

During the 1980's, technology with the ability to identify an underlying chromosome defect in these syndromes was developed. The technology determined that greater than 90% of all people with features of Shprintzen, DiGeorge, and Velo-Cardio-Facial syndromes had a chromosome deletion in the region of 22q11.2. What this meant is this was the same syndrome, yet because a number of different researchers in various areas of expertise had described it, the syndrome carried a number of names. Many doctors and researchers today use the term, '22q11.2 Deletion syndrome,' because it describes the underlying chromosome issue, or, 'Velo-Cardio-Facial syndrome (VCFS),' because it describes the main body systems affected.

Causes of Velo-cardio-facial Syndrome

As doctors and researchers have discovered, 90% of people with the features of this syndrome are missing a small part of their chromosome 22 at the q11 region. The region encompasses around 30 individual genes and results in developmental defects in specific structures throughout a person's body. Medical science does not know at this time why this region of chromosome 22 is prone to deletion, yet this is one of the most frequent chromosome defects in newborns.

Deletion in 22q11.2 is estimated to happen in 1 in every 3,000 to 4,000 births. The majority of people with 22q11.2 chromosome deletion are new occurrences or happen by chance. In approximately 10% of families, the deletion is inherited and other family members are affected, or are at risk of passing the deletion to their children. The gene is, 'autosomal dominant,' and any person who has the deletion has a 50% chance of passing the deletion to their children. Due to this, whenever a deletion is diagnosed - both parents are offered the opportunity to have their blood studied to search for the deletion.

Interestingly, around 10% of people who have the features of VCFS do not have a deletion in their chromosome 22q11 region. Other chromosome defects have been associated with the features of the syndrome, as have fetal alcohol syndrome, maternal diabetes, and prenatal exposure to a medication for cystic acne called, 'Accutane.'

Features of Velo-Cardio-Facial syndrome

Not every person will experience all of the features of VCFS. The severity of the features will vary between people. What follows are the most common features of Velo-Cardio-Facial syndrome:

• Feeding Difficulties
• Microcephaly, or a small head
• Hearing loss, or abnormal ear exams
• Hypocalcemia, or low blood calcium levels
• IQ levels that are usually in the 70 to 90 range
• Mental retardation, often times borderline to mild
• Palatal abnormalities such as cleft palate and/or lip
• Genitourinary anomalies, such as absent or malformed kidney
• Psychiatric disorders in adults, such as bipolar disorder or schizophrenia
• Conotruncal heart defects such as tetralogy of Fallot, ventricular septal defects, interrupted aortic arch, or vascular rings
• Severe immunologic dysfunction, which means the person has an immune system that does not work properly due to abnormal T-cells, causing frequent infections

In addition children with VCFS may experience other features. Children with VCFS may experience features to include the following:

• Hooded eyelids
• Cleft lip and/or palate
• Asymmetric crying facies
• Small ears with squared upper ear
• Small mouth, chin, and side areas of their nose tip

It is important to understand that the symptoms of Velo-Cardio-Facial syndrome (VCFS) might resemble other issues or medical conditions. Always consult a doctor to achieve a proper diagnosis.

Diagnosing Velo-Cardio-Facial syndrome

Along with a prenatal history, a physical examination, and a complete family and medical history, the diagnostic procedures for Velo-Cardio-Facial syndrome may include a number of other tests or studies. The tests or studies may include the following:

Blood tests: As well as tests to examine for immune system issues

X-ray: A diagnostic test that uses electromagnetic energy beams to create images of a person's bones, internal tissues, and organs onto film.

Echocardiography: Electrocardiography is a procedure that evaluates the structure and function of a person's heart using sound waves recorded on an electronic sensor that produces a moving picture of the person's heart and heart valves.

Flouresence in Situ Hybridization (FISH) Studies: When features of clefting, conotruncal heart defects, hypocalcemia, absent thymus, and specific facial features are identified in a person, a blood test is commonly ordered with the goal of searching for a deletion in chromosome 22q11.2. FISH is specifically designed to search for small groups of genes that are deleted. If the FISH test does not find a deletion in the 22q11.2 region and the features of VCFS remain strongly suggestive in a person, a full chromosome study is often times performed to search for other chromosome defects that are associated with the syndrome.

If a 22q11.2 chromosome deletion is detected in a person, both of the person's parents are offered a FISH test to find out if the deletion is inherited. In around 10% of families the deletion is inherited from on of the parents. Any person who has the deletion has a 50% chance of passing it on to their children.

Treating Velo-Cardio-Facial syndrome (VCFS)

The specific treatment a person with VCFS receives is determined by their doctor. The person's doctor bases their treatment on a number of things to include:

• The type of the syndrome
• The extent of the syndrome
• The person's preferences or opinions
• The expectations for the course of the syndrome
• The person's age, medical history, and overall health
• Any heart defects the person experiences as determined by a cardiologist
• The person's tolerance for specific procedures, medications, or types of therapies
• Any feeding difficulties the person experiences as evaluated by speech and gastrointestinal specialists

Every person with a 22q11.2 deletion should receive an immunology evaluation. In order to monitor T-Cell disorder and recurrent infections, live viral vaccines should be avoided, and all blood products for needed transfusions should be irradiated, unless cleared by an immunology doctor. People with VCFS who experience an immune system where function is absent require a bone marrow transplant.

A number of newborns with a 22q11.2 deletion benefit from early intervention to assist with mental stimulation, muscle strength, as well as speech issues. Treatment basically depends on the specific symptoms each child experiences.

A small number of children with severe immune system issues or severe heart defects may not survive their first year of life sadly. With proper treatment of immune system disorders, heart defects, and other health issues - the vast majority of people with a 22q11.2 deletion survive and grow into adulthood. They commonly need additional help throughout their educational process and need long-term care for their personal health needs.

Insights, Analysis, and Developments

Author Credentials: Thomas C. Weiss is a researcher and editor for Disabled World. Thomas attended college and university courses earning a Masters, Bachelors and two Associate degrees, as well as pursing Disability Studies. As a CNA Thomas has providing care for people with all forms of disabilities. Explore Thomas' complete biography for comprehensive insights into his background, expertise, and accomplishments.

* Editorial additions by Ian C. Langtree.