22q11.2 deletion syndrome

22q11.2 deletion syndrome is a congenital malformation disorder that affects multiple systems, including the heart, immune system, palate, and facial structure. It arises from a microdeletion on chromosome 22 and is characterized by a spectrum of clinical issues such as cardiac defects, palatal anomalies, immune deficiency, and developmental delays. The condition is observed in approximately 1 in 4,000 to 6,000 births, which underscores its importance as a significant clinical entity despite being relatively uncommon. Not all individuals experience every feature, and the severity of symptoms varies considerably.

Characteristic findings in 22q11.2 deletion syndrome include a microdeletion on chromosome 22 that leads to congenital cardiac defects, particularly conotruncal anomalies, as well as palatal abnormalities such as cleft palate or velopharyngeal insufficiency. Affected individuals may also have characteristic facial features, thymus hypoplasia or aplasia leading to immune deficiency, and hypocalcemia resulting from parathyroid hypoplasia. Developmental delays are common and can affect cognitive and behavioral development. Not all individuals experience all these features, and severity varies considerably.

22q11.2 deletion syndrome results from a microdeletion on chromosome 22 that disrupts the function of several genes, which contributes to the diverse clinical manifestations seen in affected individuals. Although specific gene names are not mentioned in this report, it is understood that several genes in the deleted region are involved in normal developmental processes. Approximately 90% of cases occur de novo, meaning the deletion arises as a new genetic change rather than being inherited, while about 10% of cases are passed on from an affected parent. This distinction is crucial for understanding recurrence risks, and families are encouraged to seek genetic counseling for more personalized guidance.

Treatment for 22q11.2 deletion syndrome focuses on supportive care and addressing the individual symptoms as they arise. Foundational therapies include cardiac surgery to repair congenital heart defects, speech therapy for velopharyngeal insufficiency, calcium and vitamin D supplementation for hypocalcemia, immunologic monitoring and management to support the immune system, as well as developmental support and educational interventions. Psychiatric care may also be beneficial for managing behavioral and mental health concerns. Management is carried out by a multidisciplinary team that can include geneticists, cardiologists, immunologists, endocrinologists, speech-language pathologists, psychiatrists, and developmental pediatricians, and patients should discuss treatment options with their healthcare team to tailor the care plan to their specific situation.

The prognosis for 22q11.2 deletion syndrome is highly variable and depends on the range and severity of symptoms as well as the timeliness and quality of interventions. With current standards of care, many affected individuals experience significant improvements in quality of life and may live well into adulthood. Outcomes described in medical literature continue to evolve as standards of care improve, and individualized treatment plans play a crucial role in managing complications. Families are encouraged to connect with specialists, including genetic counselors, to gain personalized guidance and support as they navigate the complexities of the condition.

Active research on 22q11.2 deletion syndrome includes several clinical trials investigating new treatment strategies. Ongoing studies are exploring neurodevelopmental outcomes, psychiatric interventions, and immune reconstitution approaches, reflecting the multidisciplinary nature of this condition. Individuals interested in learning more about emerging therapies or participating in research can search ClinicalTrials.gov or consult their care team for additional information.