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Metatropic dysplasia

Disease definition

Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.

ORPHA:2635

  • Synonym(s):
    • Metatropic dwarfism
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Not applicable 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q77.8
  • OMIM: 156530
  • UMLS: C0265281
  • MeSH: C537356
  • GARD: 3571
  • MedDRA: -

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