Maxillofacial surgery: Van der Woude syndrome: practice question

A Dentistry 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.

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Dentistry · Maxillofacial surgery: Van der Woude syndrome

Sample item

An infant has cleft lip and palate with paired pits on the lower lip. Which syndrome and gene?

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

The answer and the reasoning

A. Van der Woude syndrome, IRF6

Van der Woude syndrome is autosomal dominant with lower lip pits and orofacial clefting due to IRF6 mutation. It is the commonest syndromic form of cleft.

Option by option

  • A. Van der Woude syndrome, IRF6 (correct)

    Correct. Lip pits with clefts indicate IRF6.

  • B. Down syndrome, trisomy 21

    Down syndrome is not associated with lip pits.

  • C. Treacher Collins syndrome, TCOF1

    Treacher Collins shows malar hypoplasia and ear defects.

  • D. Pierre Robin sequence, SOX9

    Pierre Robin sequence shows micrognathia and glossoptosis, not lip pits.

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.

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Questions about this Dentistry question

What is the answer to this Dentistry question?

The best answer is A, Van der Woude syndrome, IRF6. Van der Woude syndrome is autosomal dominant with lower lip pits and orofacial clefting due to IRF6 mutation.

Why is "Down syndrome, trisomy 21" not the answer?

Down syndrome is not associated with lip pits.

Why is "Treacher Collins syndrome, TCOF1" not the answer?

Treacher Collins shows malar hypoplasia and ear defects.

Why is "Pierre Robin sequence, SOX9" not the answer?

Pierre Robin sequence shows micrognathia and glossoptosis, not lip pits.

What concept does this question test?

It tests Maxillofacial surgery: Van der Woude syndrome in Dentistry. It is the commonest syndromic form of cleft.

How hard is this question?

We tag it as a multi-step question: it asks you to combine more than one idea. 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 Maxillofacial surgery: Van der Woude syndrome?

Learn the dental formula, eruption ages and tooth structure once, as tables. Then use the flashcards and the other Dentistry 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.