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Prader-Willi Syndrome — RACP Paediatrics MCQ

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ModerateGenetics & MetabolicPrader-Willi SyndromeRACP Paediatrics

A newborn presents with hypotonia, poor feeding, almond-shaped eyes, and undescended testes. Methylation studies at 15q11-q13 show absence of the paternal allele. What is the most likely diagnosis?

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Correct answer: C — Prader-Willi syndrome

Prader-Willi syndrome is caused by absence of paternally expressed genes at 15q11-q13 (most commonly by deletion, or maternal uniparental disomy). Neonatal features include severe hypotonia, feeding difficulties, and cryptorchidism. Later features include hyperphagia, obesity, short stature, intellectual disability, and behavioural problems. Growth hormone therapy is indicated from infancy.

Reference: RACP – 2024 – Paediatric Curriculum: Clinical Genetics