Paediatric orthopaedics: Ellis-van Creveld 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.

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Orthopaedics · Paediatric orthopaedics: Ellis-van Creveld syndrome

Sample item

A child has short limbs, postaxial polydactyly, dysplastic nails and teeth, and an atrial septal defect. Which syndrome is this?

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

The answer and the reasoning

A. Ellis-van Creveld syndrome

Ellis-van Creveld syndrome (chondroectodermal dysplasia) is an autosomal recessive ciliopathy due to EVC mutations. It combines short limbs, postaxial polydactyly, ectodermal dysplasia and a congenital heart defect, most often a common atrium or ASD. It is seen at higher frequency in the Old Order Amish.

Option by option

  • A. Ellis-van Creveld syndrome (correct)

    Correct. Short limbs with postaxial polydactyly, ectodermal dysplasia and a septal defect make this syndrome.

  • B. Poland syndrome

    Poland syndrome is unilateral absence of pectoralis major with ipsilateral hand syndactyly.

  • C. Holt-Oram syndrome

    Holt-Oram syndrome has radial ray and thumb abnormalities with an ASD or VSD, but not dwarfism or nail and tooth dysplasia.

  • D. Cleidocranial dysplasia

    Cleidocranial dysplasia features absent clavicles, open fontanelles and dental anomalies, without polydactyly.

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 Orthopaedics question

What is the answer to this Orthopaedics question?

The best answer is A, Ellis-van Creveld syndrome. Ellis-van Creveld syndrome (chondroectodermal dysplasia) is an autosomal recessive ciliopathy due to EVC mutations.

Why is "Poland syndrome" not the answer?

Poland syndrome is unilateral absence of pectoralis major with ipsilateral hand syndactyly.

Why is "Holt-Oram syndrome" not the answer?

Holt-Oram syndrome has radial ray and thumb abnormalities with an ASD or VSD, but not dwarfism or nail and tooth dysplasia.

Why is "Cleidocranial dysplasia" not the answer?

Cleidocranial dysplasia features absent clavicles, open fontanelles and dental anomalies, without polydactyly.

What concept does this question test?

It tests Paediatric orthopaedics: Ellis-van Creveld syndrome in Orthopaedics. It combines short limbs, postaxial polydactyly, ectodermal dysplasia and a congenital heart defect, most often a common atrium or ASD. It is seen at higher frequency in the Old Order Amish.

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 orthopaedics: Ellis-van Creveld 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.