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DiGeorge Syndrome: Causes, Symptoms and Treatment

DiGeorge syndrome is a congenital condition caused by a genetic deletion on chromosome 22, affecting the immune system, heart, and overall development.

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Things worth knowing about "DiGeorge Syndrome"

DiGeorge syndrome is a congenital condition caused by a genetic deletion on chromosome 22, affecting the immune system, heart, and overall development.

What Is DiGeorge Syndrome?

DiGeorge syndrome is a congenital disorder caused by the deletion of a small segment of chromosome 22, specifically at position 22q11.2. For this reason, it is also known as 22q11.2 deletion syndrome. The missing genetic material disrupts the normal development of several organ systems, most notably the immune system, the heart, and the parathyroid glands. The syndrome is named after American physician Angelo DiGeorge, who first described it in the 1960s.

Causes

The underlying cause of DiGeorge syndrome is a microdeletion on the long arm of chromosome 22 (region 22q11.2). In approximately 90 percent of cases, this deletion occurs spontaneously as a new genetic event and is not inherited from either parent. In the remaining cases, an affected parent can pass the deletion on to their child. DiGeorge syndrome affects approximately 1 in 4,000 live births, making it one of the most common chromosomal deletion disorders.

Symptoms

Because the deletion affects multiple genes, the clinical presentation of DiGeorge syndrome is highly variable. Not all individuals experience the same symptoms. The most common features include:

Congenital heart defects: Present in approximately 75 percent of affected individuals, including ventricular septal defects and outflow tract abnormalities.
Immune deficiency: An underdeveloped or absent thymus gland (thymic hypoplasia or aplasia) leads to reduced T-lymphocyte production and increased susceptibility to infections.
Hypocalcemia: Underdeveloped parathyroid glands cause low blood calcium levels, which can lead to muscle cramps (tetany) and seizures.
Characteristic facial features: Including low-set ears, a small chin, widely spaced eyes, and a broad nasal bridge.
Cleft palate: Palatal abnormalities are frequently observed.
Developmental delays: Many children experience delays in speech and motor development.
Psychiatric conditions: Adults with DiGeorge syndrome have an elevated risk of developing schizophrenia, anxiety disorders, and other psychiatric conditions.

Diagnosis

DiGeorge syndrome can be detected prenatally through chromosomal analysis of amniotic fluid or chorionic villi, particularly if cardiac defects or other anomalies are identified on ultrasound. After birth, the diagnosis is confirmed through:

FISH test (Fluorescence in situ Hybridization): The standard method for detecting the 22q11.2 deletion.
Array-CGH (Comparative Genomic Hybridization): A more detailed method for identifying chromosomal changes.
Blood tests: Measurement of calcium levels, parathyroid hormone, and T-lymphocyte counts.
Echocardiography: Cardiac ultrasound to assess congenital heart defects.

Treatment

There is currently no cure for DiGeorge syndrome. Treatment is tailored to each individual based on their specific symptoms and organ involvement:

Heart Defects

Congenital heart defects are corrected surgically, often within the first weeks or months of life, depending on the severity.

Immune Deficiency

In cases of severe T-cell deficiency, thymus tissue transplantation or stem cell transplantation may be considered. Regular vaccinations and immunoglobulin replacement therapy may also be necessary.

Hypocalcemia

Low calcium levels are managed with calcium and vitamin D supplements, which are often required on a long-term basis.

Developmental Support

Children with DiGeorge syndrome frequently benefit from early intervention programs, speech therapy, occupational therapy, and physiotherapy to address developmental delays.

Mental Health

Psychiatric conditions are treated according to established clinical guidelines, using psychotherapy, medication, or a combination of both.

Prognosis

The outlook for individuals with DiGeorge syndrome depends greatly on the nature and severity of their symptoms. Many affected people live fulfilling lives with appropriate medical care. Severe heart defects or significant immune deficiencies can affect life expectancy. Ongoing monitoring by a multidisciplinary team including cardiologists, immunologists, endocrinologists, and developmental specialists is strongly recommended.

References

McDonald-McGinn DM et al. - DiGeorge syndrome and other 22q11.2 deletion syndromes. In: GeneReviews, NCBI Bookshelf, 2023.
World Health Organization (WHO) - International Classification of Diseases (ICD-11), section on immune deficiencies and chromosomal anomalies, 2022.
Bassett AS et al. - Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome. Journal of Pediatrics, 2011.

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