DiGeorge Syndrome (22q11.2 Deletion Syndrome)

DiGeorge syndrome, more precisely known as 22q11.2 deletion syndrome, is a condition brought on by a minor loss of chromosome 22. Many bodily systems suffer from inadequate development as a result of this loss.

DiGeorge syndrome, velocardiofacial syndrome, and other illnesses with the same genetic etiology are all included under the umbrella term 22q11.2 deletion syndrome, however, some of their characteristics may differ somewhat. Heart abnormalities, impaired immune system function, a cleft palate, issues related to low calcium levels in the blood, delayed development with behavioral and mental issues, and 22q11.2 deletion syndrome are all prevalent medical issues.

Variables include the frequency and intensity of symptoms related to 22q11.2 deletion syndrome. However, practically everyone with this illness needs care from professionals across a range of disciplines.

DiGeorge Syndrome: Causes

Chromosome 22 is present in each person in two copies, one from each parent. When someone has DiGeorge Syndrome, one copy of a section with an estimated 30 to 40 genes missing from chromosome 22. Several of these genes are not widely known and have unclear identities. 22q11.2 is the name of the missing portion of chromosome 22.

Genes from chromosome 22 are frequently randomly deleted in the mother's or father's sperm or egg, while it can also happen at an early stage of fetal development. Occasionally, the deletion is a hereditary disorder that a parent with deletions in chromosome 22 may or may not have symptoms passes on to a kid.

DiGeorge Syndrome: Symptoms

Depending on which bodily systems are impacted and how serious the errors are, the signs and symptoms of DiGeorge syndrome (22q11.2 deletion syndrome) might differ in kind and degree. Some signs and symptoms could not develop until later in infancy or early childhood, while some might be visible at birth.

There may be a mix of the following signs and symptoms −

  • A cardiac defect may cause a heart murmur and blue skin due to inadequate oxygen-rich blood circulation (cyanosis).

  • Many infections

  • Some facial characteristics, such as an undeveloped chin, low-set ears, widely spaced eyes, or an upper lip groove,

  • Cleft palate, which is a gap in the palate, or other issues with the palate

  • Sluggish growth

  • Eating issues, a failure to gain weight or digestive issues

  • Breathing difficulties

  • Muscle tone issues

  • Delayed newborn milestones including rolling over, sitting up, or other developmental delays

  • Speech that hasn't developed properly or sounds nasal

  • Learning difficulties or delays

  • Behavioural issues

When to Visit a Doctor?

Similar signs and symptoms of 22q11.2 deletion syndrome can be caused by other diseases. In light of this, it's crucial to obtain a diagnosis as soon as your child exhibits any of the aforementioned indications or symptoms.

The 22q11.2 deletion syndrome may be suspected by doctors −

  • Upon birth. Diagnostic testing will probably start before your kid leaves the hospital if specific abnormalities, such as a serious heart defect, cleft palate, or a combination of other characteristics indicative of 22q11.2 deletion syndrome, are immediately noticeable at birth.

  • During checkups for babies. Several diseases or disorders that manifest over time may lead your family doctor or pediatrician to suspect the problem. At routine well-baby exams or your child's yearly checkups, your doctor can notice other problems.

Some complications include −

  • Autoimmune diseases, in which the immune system of the body damages its cells.

  • Autoimmune diseases, in which the immune system of the body damages its cells.

  • Hearing and visual impairment.

  • Hearing and visual impairments that cause learning challenges.

DiGeorge Syndrome: Risk Factors

A tiny percentage of persons have an increased chance of getting DiGeorge syndrome if one of their parents has the condition. Most of the time, the syndrome's causes are just unknown.

DiGeorge Syndrome: Diagnosis

DiGeorge syndrome (22q11.2 deletion syndrome) is generally diagnosed by a laboratory test that can find the loss in chromosome 22. If one of the following conditions exists in your child −

  • A group of ailments or illnesses that together point to 22q11.2 deletion syndrome

  • A cardiac issue, as 22q11.2 deletion syndrome is frequently associated with various heart abnormalities

In certain instances, a kid may have a cluster of symptoms that point to 22q11.2 deletion syndrome, but the lab test does not reveal a chromosome 22 deletion. The coordination of treatment to deal with all of the medical, developmental, or behavioral issues will probably be comparable even if these patients provide a diagnostic challenge.

DiGeorge Syndrome: Treatment

DiGeorge syndrome (22q11.2 deletion syndrome) has no known cure, however, therapies may generally fix serious issues such as a heart deformity or cleft palate. You can treat or keep an eye on additional health concerns as well as behavioral, mental health, or developmental difficulties as necessary.

Interventions for the following may be part of 22q11.2 deletion syndrome treatments and therapy −

  • Hypoparathyroidism. The majority of the time, calcium and vitamin D supplements can be used to treat hypoparathyroidism.

  • Heart problems. The majority of 22q11.2 deletion syndrome-related cardiac abnormalities need immediate postnatal surgery to mend the heart and increase the flow of oxygen-rich blood.

  • Restricted thymus gland activity. If your child has some thymic activity, infections could be common but not always serious.

  • The same treatment is typically given to children with these diseases, which are typically colds and ear infections. The majority of kids with impaired thymic function receive their shots according to schedule. Immune system performance often gets better with age for kids with mild thymus dysfunction.

  • Severe malfunction of the thymus. Your child is at risk for several serious infections if the thymus is severely impaired or absent. A transplant of thymus tissue, specific bone marrow cells, or specialized disease-fighting blood cells is necessary for treatment.

  • Palate deformity. The majority of palate and lip defects may be surgically corrected, including cleft palates.

  • General advancement. A variety of therapies, such as speech therapy, occupational therapy, and developmental therapy, may probably be advantageous for your kid.

  • Early intervention programs offering these kinds of therapy are often provided by a state or local health department in the United States.

  • Psychiatric treatment. If your kid is subsequently found to have depression, autism spectrum disorder, attention-deficit/hyperactivity disorder (ADHD), or any other mental health or behavioral difficulties, treatment may be advised.

  • Managing additional conditions. This could involve taking care of challenges with eating and development, hearing or vision issues, as well as other medical disorders.

DiGeorge Syndrome: Prevention

DiGeorge syndrome (22q11.2 deletion syndrome) can occasionally be transferred from a parent with the condition to a child. If you're concerned about a family history of 22q11.2 deletion syndrome, or if you already have a child with the condition, you may wish to visit a doctor who specializes in genetic diseases (geneticist) or a genetic counsellor for help in planning future pregnancies.


A hereditary condition called DiGeorge syndrome manifests at birth or in the first few years of life. Heart problems, somewhat altered facial traits, and developmental delays may all be brought on by the condition. The symptoms of DiGeorge syndrome might be mild or severe.

Dr. Durgesh Kumar Sinha
Dr. Durgesh Kumar Sinha


Updated on: 26-Apr-2023


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