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 NICE NG72 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 NICE NG72 Purow et al. 2025.
• Hypocalcaemia: Resulting from parathyroid hypoplasia, presenting with seizures or tetany in infancy, is a key biochemical feature NICE NG72 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 NICE NG72 Purow et al. 2025.
• Palatal abnormalities: Such as cleft palate or velopharyngeal insufficiency, contributing to feeding difficulties and speech problems NICE NG72 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 NICE NG72 Biggs et al. 2023Diniz et al. 2023Purow et al. 2025.