MRCPCH Part 2 exam preparation with Expert Practice

Question:

A 6-week-old infant is brought to the clinic with poor feeding, vomiting, and failure to thrive. On examination, the infant is hypotonic, has almond-shaped eyes, a narrow forehead, and small hands and feet. You notice hypopigmented skin patches on the trunk. Heart sounds are normal.

Which of the following is the most likely diagnosis?

1. Angelman syndrome

2. Prader-Willi syndrome

3. Down syndrome

4. Smith-Lemli-Opitz syndrome

5. Noonan syndrome

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Stepwise reasoning (MRCPCH style):

1. Key features in the vignette:

   • Poor feeding, hypotonia → neonatal/infant failure to thrive

   • Almond-shaped eyes, small hands/feet → dysmorphic features

   • Hypopigmented patches → clue for genetic imprinting disorder

   • Heart normal → can help exclude syndromes with common cardiac defects

2. Evaluate each option:

   • Angelman syndrome: Severe developmental delay, seizures, happy demeanor, ataxia. Usually normal neonatal feeding. ❌

   • Prader-Willi syndrome: Neonatal hypotonia, poor feeding, failure to thrive, almond-shaped eyes, small hands/feet, hypopigmented skin. ✅ Fits perfectly.

   • Down syndrome: Hypotonia, facial features, congenital heart disease common. ❌ Feeding issues usually less severe.

   • Smith-Lemli-Opitz: Dysmorphic features, cleft palate, syndactyly, microcephaly. ❌

   • Noonan syndrome: Dysmorphic facies, cardiac defects (pulmonic stenosis). ❌

3. Synthesis:

   • Neonatal hypotonia + poor feeding + dysmorphic features + hypopigmentation = Prader-Willi syndrome.

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Answer:
2. Prader-Willi syndrome ✅

MRCPCH Part 2 exam preparation– Prepare with Confidence

MRCPCH Part 2 exam preparation. Preparing for the MRCPCH Part 2 exam requires more than memorizing facts; it involves applying clinical reasoning, interpreting data, and managing real-life paediatric scenarios. This stage of the Membership of the Royal College of Paediatrics and Child Health (MRCPCH) examination assesses your ability to make safe, evidence-based clinical decisions for children across all age groups.

Our MRCPCH Part 2 practice resources are designed to help paediatric trainees strengthen their understanding of high-yield topics, including neonatology, cardiology, neurology, endocrinology, infectious diseases, and growth disorders. Each practice question mirrors the style and complexity of the actual exam, helping you develop exam-ready thinking and confidence.

Detailed explanations accompany every question, highlighting key concepts, clinical reasoning steps, and common pitfalls. Our platform also tracks performance, identifies weak areas, and suggests targeted revision strategies, ensuring your study is efficient and focused.

MRCPCH Part 2 exam preparation

Whether you are attempting the exam for the first time or aiming to improve your score, consistent practice with MRCPCH Part 2 questions is essential. Pair your revision with up-to-date guidelines, data interpretation exercises, and mock exams to ensure thorough preparation.

Start your MRCPCH Part 2 practice today and build the clinical judgment, speed, and confidence needed to succeed in one of the most respected paediatric qualifications worldwide.