Orphanet: Langer mesomelic dysplasia

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Langer mesomelic dysplasia

Disease definition

A rare, genetic skeletal dysplasia characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.


Classification level: Disorder
  • Synonym(s):
    • Mesomelic dwarfism, Langer type
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal
  • ICD-10: Q87.1
  • OMIM: 249700
  • UMLS: C0432230
  • MeSH: C537267
  • GARD: 3553
  • MedDRA: -

Detailed information


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