DiGeorge Syndrome (22q11.2 deletion syndrome)

Diagnosis

A diagnosis of DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is primarily confirmed through a laboratory test that detects a missing section in chromosome 22. Healthcare professionals usually recommend this test when a child shows:

• A combination of medical issues or developmental delays suggesting 22q11.2 deletion syndrome

• Heart defects, as certain congenital heart problems are closely associated with this syndrome

In some cases, a child may have clinical signs of the syndrome, but the genetic test may not show a deletion in chromosome 22. In such situations, further evaluations and genetic counseling may be advised.

More Information

Genetic testing plays a central role in confirming DiGeorge syndrome and understanding the extent of the chromosomal deletion. This helps guide treatment plans and long-term care strategies.

Treatment

There is no cure for DiGeorge syndrome (22q11.2 deletion syndrome), but treatments can effectively manage most associated conditions. Medical care focuses on correcting life-threatening issues early, such as heart defects or cleft palate, and providing ongoing support for developmental and behavioral needs.

Treatment and therapy approaches may include:

• Hypoparathyroidism management: Calcium and vitamin D supplements are commonly prescribed to regulate calcium levels. Additional supplements may be recommended as needed.

• Heart problems: Many congenital heart defects require early surgical intervention to restore normal blood flow.

• Limited thymus function: Children with partial thymic function may experience frequent but manageable infections such as colds or ear infections. Standard vaccinations are usually safe, and immune strength often improves with age.

• Severe thymus dysfunction: When thymic function is severely impaired or absent, the child may face recurrent severe infections. Treatments may involve thymus tissue transplantation, bone marrow cells, or specialized immune cell therapy.

• Cleft palate: Surgery can usually correct cleft palate and related structural issues of the mouth and lip.

• Developmental support: Early intervention programs providing speech, occupational, and developmental therapy can help children reach age-appropriate milestones.

• Mental health care: Children may require psychological support or treatment for conditions such as ADHD, autism spectrum disorder, or depression.

• Other conditions: Feeding difficulties, growth delays, and hearing or vision problems may also require specific medical management.

Healthcare Team

Because 22q11.2 deletion syndrome affects multiple body systems, a coordinated care approach is essential. The child’s healthcare team may evolve over time depending on ongoing needs.

Key specialists involved in care may include:

• Pediatrician

• Geneticist

• Cardiologist

• Immunologist

• ENT specialist (ear, nose, and throat doctor)

• Infectious disease specialist

• Endocrinologist

• Oral and maxillofacial surgeon

• Cardiovascular surgeon

• Occupational therapist

• Speech therapist

• Developmental therapist

• Child psychiatrist or psychologist

A multidisciplinary team ensures that each aspect of the child’s health—physical, developmental, and emotional—is addressed comprehensively for improved quality of life.