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Familial digital arthropathy-brachydactyly

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Disease definition

Familial digital arthropathy-brachydactyly 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.

ORPHA:85169

Classification level: Disorder

Prevalence: Unknown

Inheritance: Autosomal dominant

Age of onset: Infancy, Neonatal

ICD-10: M06.8

ICD-11: LD24.8Y

OMIM: 606835

UMLS: C1847406

MeSH: C564656

A summary on this disease is available in Français (2007) Español (2007) Deutsch (2007) Italiano (2007) Nederlands (2007)
Detailed information
Disease review articles
Clinical genetics review
English (2020) - GeneReviews

Logo ERN: produced/endorsed by ERN(s) Logo FSMR: produced/endorsed by FSMR(s)

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