DiGeorge syndrome

DiGeorge syndrome is a multisystem developmental condition caused by a small missing segment of chromosome 22 that includes the TBX1 gene, which plays an important role in how organs and tissues form during early growth. The syndrome can affect the immune system, heart, endocrine glands, growth, and cognitive development, so children are often diagnosed in infancy or early childhood when congenital heart disease, low calcium levels, or frequent infections become apparent. Both males and females can be affected, and symptoms may range from mild to severe. Precise population figures are not well established, but the condition is generally considered uncommon. Because health problems span several body systems, coordinated lifelong care is essential.

DiGeorge syndrome presents differently from one individual to the next, and not all individuals experience all features. In early life, many babies show congenital heart defects involving the outflow tracts, low blood calcium due to under-developed parathyroid glands, and recurrent infections because of a small or absent thymus. Neurological and developmental concerns are common: many children have intellectual disability, learning differences, or developmental delays, and some experience seizures related either to low calcium or to brain involvement. Recurrent ear and sinus infections, chronic lung problems such as asthma or obstructive changes, and feeding or growth difficulties may also lead to evaluation. Over time, additional issues can emerge. Skeletal findings such as scoliosis or patellar dislocation, renal anomalies including unilateral renal agenesis or hydronephrosis, and hormonal or reproductive findings like ovarian cysts or hydrocele may appear. Some adolescents and adults develop obesity, hepatic steatosis, or anxiety and mood disorders. Because the syndrome affects skin and connective tissue, seborrheic dermatitis, thrombocytopenia, or cholelithiasis are reported in a subset. Cognitive and behavioral challenges can continue into adulthood and benefit from educational supports and neuropsychological services. Severity and symptoms vary widely between individuals, even within the same family, underscoring the need for personalized monitoring and care.

Most individuals with DiGeorge syndrome have a deletion on chromosome 22 at position 22q11.2 that removes one copy of the TBX1 gene. TBX1 helps regulate development of the pharyngeal pouches, structures that give rise to the thymus, parathyroids, and parts of the heart and face. Losing one functional copy disrupts normal formation of these tissues and leads to the diverse features of the condition. The syndrome follows an autosomal dominant inheritance pattern, meaning that a single deleted copy of TBX1 is sufficient to cause symptoms. An affected person has a 50 percent chance of passing the deletion to each child. Even so, the presentation shows marked variable expressivity: two family members with the same deletion can have very different health issues and degrees of severity. Genetic counseling is strongly recommended for families to understand testing options, recurrence risks, and family planning choices.

Currently, management focuses on supportive care and symptom management. Treatment is tailored to the individual and typically involves a multidisciplinary team that may include cardiology, immunology, endocrinology, neurology, genetics, and developmental specialists. Surgical repair of heart defects, calcium supplementation for hypocalcemia, and prompt treatment of infections are common early interventions. Speech, physical, and occupational therapies support developmental progress, while educational plans address learning challenges. Long-term management includes regular surveillance for potential complications. This monitoring may involve periodic cardiac imaging, assessment of immune function, thyroid and calcium level checks, hearing evaluations, and screening for scoliosis or renal anomalies. Early detection through routine monitoring helps address issues before they become serious. Because no targeted or disease-modifying therapies are approved at this time, ongoing research and carefully coordinated care remain central to improving quality of life. Genetic counseling provides families with information about inheritance, testing of relatives, and future pregnancy options.

With timely medical and surgical care, many individuals with DiGeorge syndrome grow into adulthood, attend school, and participate in work and family life. Outcomes depend on the type and severity of heart disease, the degree of immune dysfunction, and how early complications such as hypocalcemia or developmental delays are recognized and treated. Some people require ongoing support for learning or chronic health issues, while others have relatively mild effects. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialty centers familiar with 22q11.2 deletion syndrome, and participation in patient registries can expand knowledge of long-term health and provide access to emerging studies.

Several clinical trials are currently investigating new treatment approaches, including immune-modulating strategies and interventions aimed at improving cognitive or behavioral outcomes. Individuals interested in clinical trials can search ClinicalTrials.gov or consult their care team about eligibility.