Orphanet: Diastrophic dwarfism

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Diastrophic dwarfism

Disease definition

A rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).


Classification level: Disorder
  • Synonym(s):
    • Diastrophic dysplasia
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q77.5
  • OMIM: 222600
  • UMLS: C0220726
  • MeSH: -
  • GARD: 6275
  • MedDRA: -

Detailed information

Article for general public


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