Campomelic dwarfism

Last revised by Bahman Rasuli on 22 Sep 2021

Campomelic dwarfism, also known as campomelic dysplasia, is a rare form of skeletal dysplasia

Campomelic dwarfism is rare with an estimated incidence of ~1:200,000 births. 

  • genital malformations: may be present in ~66% of patients 6

Diagnosis is usually readily made at birth or with antenatal ultrasound. It is frequently associated with a number of non-skeletal abnormalities including:

It is thought to result from a mutation in a gene located on chromosome 17 which encodes for a transcription factor named Sox9 4. There may be an autosomal recessive inheritance 6.

Findings include:

Plain films are all that is usually required to confirm the diagnosis. 

Campomelic dysplasia is not compatible with long term survival and 97% of patients die within their first year due to respiratory insufficiency.

It is derived from the Greek "campo" (bent) and "melia" (limb).

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Cases and figures

  • Case 1: suspected campomelic dysplasia
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