Paediatric: Apert syndrome: practice question

A Orthopaedics question in the style of the NEET PG paper. Answer it first, then read why the right option is right and why each of the others is wrong.

Try it

Orthopaedics · Paediatric: Apert syndrome

Sample item

A newborn has a tall, broad skull from craniosynostosis, midface hypoplasia and complex fusion of the fingers and toes into a mitten-like hand. Which mutation is typical?

Original practice item, not a recalled exam question. Nothing here is recorded.

The answer and the reasoning

D. FGFR2

Apert syndrome is an autosomal dominant acrocephalosyndactyly caused by FGFR2 mutation. It is characterised by craniosynostosis, midface hypoplasia and symmetrical complex syndactyly of the hands and feet. Hand surgery to separate the digits is staged in early childhood.

Option by option

  • A. COL2A1

    COL2A1 mutations cause type II collagenopathies such as Stickler syndrome.

  • B. FGFR3

    FGFR3 mutations cause achondroplasia.

  • C. SHOX

    SHOX mutations cause Leri-Weill dyschondrosteosis.

  • D. FGFR2 (correct)

    Correct. FGFR2 mutations cause Apert syndrome.

Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.

More Orthopaedics questions

Questions about this Orthopaedics question

What is the answer to this Orthopaedics question?

The best answer is D, FGFR2. Apert syndrome is an autosomal dominant acrocephalosyndactyly caused by FGFR2 mutation.

Why is "COL2A1" not the answer?

COL2A1 mutations cause type II collagenopathies such as Stickler syndrome.

Why is "FGFR3" not the answer?

FGFR3 mutations cause achondroplasia.

Why is "SHOX" not the answer?

SHOX mutations cause Leri-Weill dyschondrosteosis.

What concept does this question test?

It tests Paediatric: Apert syndrome in Orthopaedics. It is characterised by craniosynostosis, midface hypoplasia and symmetrical complex syndactyly of the hands and feet. Hand surgery to separate the digits is staged in early childhood.

How hard is this question?

We tag it as an application question: it asks you to use a fact on a patient or a finding. The tag is our own editorial judgement, not an official difficulty rating, so read the reason for every option, not only the answer.

How should I study Paediatric: Apert syndrome?

Pair each fracture with its classic complication and nerve injured. Then use the flashcards and the other Orthopaedics questions on this site to test what stuck.

Is this a real NEET PG question?

No. It is an original practice item (editorial status: sample, version 1). NextPrep does not publish recalled or leaked questions, and independent faculty review of this item has not been completed yet, so confirm important facts in a standard textbook.