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Mesomelic dysplasia, Kantaputra type

Disease definition

Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature.


Classification level: Disorder
  • Synonym(s):
    • Kantaputra mesomelic dysplasia
    • MDK
    • Mesomelic dysplasia, Thai type
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: Q78.8
  • OMIM: 156232  613681
  • UMLS: C1835009
  • MeSH: C535547
  • GARD: 3074
  • MedDRA: -
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