Beckwith-Wiedemann Syndrome — RACP Paediatrics MCQ

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ModerateEndocrinologyBeckwith-Wiedemann SyndromeRACP Paediatrics

A newborn has a large tongue (macroglossia), ear creases, hemihypertrophy, omphalocele, and neonatal hypoglycaemia. What syndrome does this child have?

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Correct answer: D — Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome: macroglossia, macrosomia, omphalocele/umbilical hernia, ear creases/pits, hemihypertrophy, and neonatal hypoglycaemia (from hyperinsulinism). Caused by imprinting abnormalities at 11p15.5. Associated with increased risk of embryonal tumours (Wilms, hepatoblastoma). USS screening recommended.

Reference: RACP – 2024 – Paediatric Curriculum: Clinical Genetics