22q11.2 deletion syndrome

Other Names: 

22q11ds; catch 22; cayler cardiofacial syndrome; chromosome 22q11.2 deletion syndrome; conotruncal anomaly face syndrome; digeorge sequence; microdeletion 22q11.2; monosomy 22q11; sedlackova syndrome; shprintzen syndrome; takao syndrome

22q11.2 deletion syndrome (which is also known by several other names, listed below) is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2. 22q11.2 deletion syndrome has many possible signs and symptoms that can affect almost any part of the body. The features of this syndrome vary widely, even among affected members of the same family. People with 22q11.2 deletion syndrome commonly have heart abnormalities that are often present from birth, recurrent infections caused by problems with the immune system, and distinctive facial features. In affected individuals, the muscles that form the roof of the mouth (palate) may not close completely, even though the tissue covering them does, resulting in a condition called submucosal cleft palate. The abnormal palate is often highly arched and there may be a split in the soft flap of tissue that hangs from the back of the mouth (bifid uvula). Submucosal cleft palate can also interfere with normal speech by causing air to come out of the nose during speech, leading to nasal-sounding speech. Affected individuals may also have breathing problems, kidney abnormalities, low levels of calcium in the blood (which can result in seizures), a decrease in blood platelets (thrombocytopenia), significant feeding difficulties, gastrointestinal problems, and hearing loss. Skeletal differences are possible, including mild short stature and, less frequently, abnormalities of the spinal bones. Many children with 22q11.2 deletion syndrome have developmental delays, including delayed growth and speech development, and some have mild intellectual disability or learning disabilities. Older affected individuals have difficulty reading, performing tasks involving math, and problem solving. Children with this condition often need help changing and adapting their behaviors when responding to situations. Additionally, affected children are more likely than children without 22q11.2 deletion syndrome to have attention-deficit/hyperactivity disorder (ADHD) and developmental conditions such as autism spectrum disorder that affect communication and social interaction. Because the signs and symptoms of 22q11.2 deletion syndrome are so varied, different groupings of features were once described as separate conditions. Doctors named these conditions DiGeorge syndrome, velocardiofacial syndrome (also called Shprintzen syndrome), and conotruncal anomaly face syndrome. In addition, some children with the 22q11.2 deletion were diagnosed with the autosomal dominant form of Opitz G/BBB syndrome and Cayler cardiofacial syndrome. Once the genetic basis for these disorders was identified, doctors determined that they were all part of a single syndrome with many possible signs and symptoms. To avoid confusion, this condition is usually called 22q11.2 deletion syndrome, a description based on its underlying genetic cause.

About 22q11.2 deletion syndrome

Many rare diseases have limited information. Currently, GARD aims to provide the following information for this disease:

• Symptoms:May start to appear at any time in life.
• Cause:This disease is caused by changes to the number or structure of a person’s chromosomes.
• Organizations:Patient organizations dedicated to this rare disease are available on GARD, or you may contact a GARD Information Specialist for additional information.
• Newborn Screening:This disease may be detected through newborn screening tests performed soon afterbirth. (Newborn screening tests may detect diseases before symptoms develop. If test results are abnormal, follow up with your medical team for additional testing and treatment options.)
• Categories:Genetic diseases(Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.)Neurological diseases(Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.)Kidney diseases(Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.)Endocrine diseases(Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).)Gastrointestinal diseases(Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.)Birth defects(Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.)

Resource(s) for Medical Professionals and Scientists on This Disease:

• GeneReview provides clinical information on genetic diseases, including diagnosis, treatment, and genetic counseling.
• MONDO provides GARD with information for this disease.
• Orphanet provides GARD with information for this disease.
• RARe-SOURCE™ offers rare disease gene variant annotations and links to rare disease gene literature.

About 22q11.2 deletion syndrome

Many rare diseases have limited information. Currently, GARD aims to provide the following information for this disease:

• Symptoms:May start to appear at any time in life.
• Cause:This disease is caused by changes to the number or structure of a person’s chromosomes.
• Organizations:Patient organizations dedicated to this rare disease are available on GARD, or you may contact a GARD Information Specialist for additional information.
• Newborn Screening:This disease may be detected through newborn screening tests performed soon afterbirth. (Newborn screening tests may detect diseases before symptoms develop. If test results are abnormal, follow up with your medical team for additional testing and treatment options.)
• Categories:Genetic diseases(Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.)Neurological diseases(Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.)Kidney diseases(Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.)Endocrine diseases(Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).)Gastrointestinal diseases(Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.)Birth defects(Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.)

Genetic Mutations

Changes in your genes (also called variants) cause 22q11.2 deletion syndrome.

Genes are sections of DNA that contains instructions that help the body grow, develop, and function. A genetic variant is a change in your DNA's order. Parents may pass variants to their children, or they may occur randomly. They may result from viruses, environmental factors, such as UV radiation, or a combination of causes.

Most genetic variants do not cause disease. However, some can affect how a gene works and interfere with the body's normal functions. A pathogenic variant is one that causes disease.

If you think you may have this disease, collect your family health history (CDC). It may help you and your medical team to know about family members who have had the disease or similar symptoms and when those symptoms first appeared.

Read more about genetic disorders (NIH MedlinePlus). 

Autosomal Dominant

Autosomal means the gene involved is located on one of the numbered chromosomes. Dominant means that a child only needs to inherit one copy of the mutated gene, from either biological parent, to be affected by the disease.

People affected by an autosomal dominant disease have a 50% chance of passing on the mutated gene to their biological child.

Learn more about inheritance patterns from the National Library of Medicine (NLM).

When Do Symptoms of 22q11.2 deletion syndrome Begin?

Symptoms of this disease may start to appear at any time in life.

The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges. The symptoms of some diseases may begin at any age. Knowing when symptoms may have appeared can help medical providers find the correct diagnosis.