Camptomelic dwarfism

Camptomelic dwarfism, also known as camptomalic dysplasia, is a rare form of skeletal dysplasia

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

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

Genetics

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

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

Findings include:

Plain film

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

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

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

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Article Information

rID: 12224
Section: Syndromes
Synonyms or Alternate Spellings:
  • Camptomelic dysplasia
  • Campomelic dwarfism
  • Campomelic dysplasia

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