What are the key clinical features to consider when diagnosing DiGeorge Syndrome in a child?

Key clinical features to consider when diagnosing DiGeorge syndrome (22q11.2 deletion syndrome) in a child include:

• Congenital heart defects: Most commonly conotruncal anomalies such as tetralogy of Fallot, interrupted aortic arch, and ventricular septal defects are hallmark features and often prompt early investigation ¹ (Diniz et al., 2023).
• Immunodeficiency: Due to thymic hypoplasia or aplasia, children may present with recurrent infections or immune dysfunction, which is a critical diagnostic clue (Biggs et al., 2023).
• Facial dysmorphism: Characteristic facial features include a long face, hooded eyelids, small mouth, and low-set ears, which aid clinical suspicion ¹ (Purow et al., 2025).
• Hypocalcaemia: Resulting from parathyroid hypoplasia, presenting with seizures or tetany in infancy, is a key biochemical feature ¹ (Biggs et al., 2023).
• Developmental delay and neuropsychiatric manifestations: These may include speech delay, learning difficulties, and behavioural problems, which often become apparent in early childhood ¹ (Purow et al., 2025).
• Palatal abnormalities: Such as cleft palate or velopharyngeal insufficiency, contributing to feeding difficulties and speech problems ¹ (Purow et al., 2025).

These features together form the clinical spectrum that should prompt genetic testing for 22q11.2 deletion. Early recognition is essential for multidisciplinary management and surveillance ¹ (Biggs et al., 2023; Diniz et al., 2023; Purow et al., 2025).