Metatropic dysplasia

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 mineralisation
  • 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.

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Article information

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

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