Familial digital arthropathy-brachydactyly

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Familial digital arthropathy-brachydactyly

ORPHA:85169Malformation syndrome

What it is

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.

Key facts

Age of onset
Infancy, Neonatal
Inheritance
Autosomal dominant
Classified as
Malformation syndrome

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Gene

TRPV4Disease-causing germline mutation(s) (loss of function)

ICD-10 codes

M06.8filed under a broader ICD-10 category

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

MESH C564656MONDO 0011732OMIM 606835UMLS C1847406

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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