American Academy of Pediatrics Publishes Clinical Report on Genetic Condition 22q11.2 Deletion Syndrome

The American Academy of Pediatrics offers pediatricians guidance in identifying and managing patients with 22q11.2 deletion syndrome, which affects roughly one in 4,000 children under 1 year. A clinical report, “Health Supervision for Children with 22q11.2 Deletion Syndrome,” published in the August 2025 Pediatrics (published online July 21) observes that children with this condition may experience a wide range of health and developmental differences. Some may have mild learning challenges or subtle physical differences, while others may face more serious concerns like heart problems, immune deficiency, neonatal seizures, feeding difficulties or mental health conditions. Newborn infants may come to attention because of a positive newborn screening for severe combined immunodeficiency (SCID). Most patients are the first affected individual in their family; 10% percent of patients inherited the deletion from an affected parent. New expert guidance helps pediatricians recognize the associated physical features and identify those patients who need higher levels of care. The AAP recommends the correct or most appropriate genetic testing and prenatal screening that can help with early diagnosis and lead to earlier care and better outcomes. Clinical reports created by AAP are written by medical experts, reflect the latest evidence in the field, and go through several rounds of peer review before being approved by the AAP Board of Directors and published in Pediatrics. To request a copy of the embargoed clinical report, contact AAP Public Affairs.

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The American Academy of Pediatrics is an organization of 67,000 primary care pediatricians, pediatric medical subspecialists and pediatric surgical specialists dedicated to the health, safety and well-being of infants, children, adolescents and young adults.