Metatropic dysplasia

A.Prof Frank Gaillard and Radswiki et al.

Metatrophic dysplasia is a rare group of skeletal dysplasia. It is part of the wider category of rhizomelic dwarfism. Disorders in this group include:

Post-natal clinical findings include a narrow chest and shortened extremities with a coccygeal tail seen in some cases. Joint contractures and kyphosciolosis can manifest within the first year of life. As the kyphoscoliosis worsens with time, eventually patients can have a comparably short appearing torso when compared to the limbs, despite associated limb shortening. 

Characteristic radiological features include:

  • short diaphyses with a wide 'mushroom' shape metaphyses (dumbell shape)
  • narrow sacrosciatic notches
  • delayed ischio-pubic mineralization
  • kyphoscoliosis
  • severe platyspondyly
  • thin dense vertebral bodies

The term 'metatropic' originates from the Greek 'metatropos - μετατροπος' which means 'changing patterns'. This name has been given in light of the fact that the skeletal phenotypes of this group of dysplasias  change with time as patients age.

Share article

Article information

rID: 15577
Tag: stub, cases
Synonyms or Alternate Spellings:
  • Metatropic dysplasia

Support Radiopaedia and see fewer ads

Updating… Please wait.

 Unable to process the form. Check for errors and try again.

 Thank you for updating your details.