Genetic and metabolic disorders: Cornelia de Lange syndrome: practice question

A Pediatrics 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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Pediatrics · Genetic and metabolic disorders: Cornelia de Lange syndrome

Sample item

A 3-year-old has severe growth failure, microcephaly, bushy eyebrows meeting in the midline, a long smooth philtrum, thin upper lip, small hands with a proximally placed thumb, hirsutism and intellectual disability. Which gene is most often mutated?

AFBN1BPTPN11CCREBBPDNIPBL

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

The answer and the reasoning

D. NIPBL

Cornelia de Lange syndrome is most often due to NIPBL mutations affecting cohesin loading. It presents with prenatal and postnatal growth failure, synophrys, upper limb reduction and intellectual disability.

Option by option

A. FBN1
FBN1 mutations cause Marfan syndrome, with tall stature, lens dislocation and aortic root dilatation.
B. PTPN11
PTPN11 mutations cause Noonan syndrome, with webbed neck, pulmonary stenosis and short stature.
C. CREBBP
CREBBP mutations cause Rubinstein-Taybi syndrome, with broad thumbs and great toes and a beaked nose.
D. NIPBL (correct)
Correct. NIPBL mutations, affecting the cohesin pathway, are the commonest cause.

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.

Questions about this Pediatrics question

What is the answer to this Pediatrics question?

The best answer is D, NIPBL. Cornelia de Lange syndrome is most often due to NIPBL mutations affecting cohesin loading.

Why is "FBN1" not the answer?

FBN1 mutations cause Marfan syndrome, with tall stature, lens dislocation and aortic root dilatation.

Why is "PTPN11" not the answer?

PTPN11 mutations cause Noonan syndrome, with webbed neck, pulmonary stenosis and short stature.

Why is "CREBBP" not the answer?

CREBBP mutations cause Rubinstein-Taybi syndrome, with broad thumbs and great toes and a beaked nose.

What concept does this question test?

It tests Genetic and metabolic disorders: Cornelia de Lange syndrome in Pediatrics. It presents with prenatal and postnatal growth failure, synophrys, upper limb reduction and intellectual disability.

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 Genetic and metabolic disorders: Cornelia de Lange syndrome?

Memorise milestones and the vaccine schedule as tables and revise them often. Then use the flashcards and the other Pediatrics 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.