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Familial digital arthropathy-brachydactyly

ORPHA85169
Synonym(s) -
Prevalence Unknown
Inheritance Autosomal dominant
Age of onset Infancy
Neonatal
ICD-10
  • M06.8
OMIM
UMLS -
MeSH -
MedDRA -

Summary

This syndrome is characterised by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant.


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Detailed information

Clinical genetics review
  • EN (2014)
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