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Distal arthrogryposis type 1

Disease definition

A form of arthrogryposis characterized by contractures of the distal regions of the hands and feet in the absence of a primary neurological and/or muscle disease affecting limb function. Facial involvement is limited to a small mouth and impaired mouth opening. No additional anomalies are reported.


Classification level: Disorder
  • Synonym(s):
    • DA1
    • Digitotalar dysmorphism
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q68.8
  • ICD-11: LD26.4Y
  • OMIM: 108120  126050  614335  618435  619110
  • UMLS: C0220662
  • MeSH: C535378
  • GARD: 787
  • MedDRA: -

Detailed information


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