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Bardet-Biedl syndrome — RACP Paediatrics MCQ

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HardEndocrineBardet-Biedl syndromeRACP Paediatrics

A 5-year-old with severe obesity has retinitis pigmentosa, polydactyly, learning difficulties, renal anomalies, and hypogonadism. What is the most likely diagnosis?

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Correct answer: A — Bardet-Biedl syndrome

The combination of obesity with retinitis pigmentosa, polydactyly, intellectual disability, renal anomalies, and hypogonadism is the classic pentad of Bardet-Biedl syndrome (autosomal recessive, ciliopathy). Night blindness from retinitis pigmentosa may be an early presenting feature. Renal involvement is the major cause of morbidity.

Reference: RACP Paediatric Curriculum – Endocrine/Genetics; RCH Melbourne – 2023 – Obesity CPG