familial digital arthropathy-brachydactyly
Findings
No curated finding names familial digital arthropathy-brachydactyly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Familial digital arthropathy-brachydactyly is characterized 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.
Definition from the Mondo Disease Ontology (MONDO:0011732), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- ArthropathyHPOHP:0003040
- 7 of 7 reported patients
- BrachytelomesophalangyHPOHP:0005872
- 7 of 7 reported patients
- BrachydactylyHPOHP:0001156
- Very frequent (80% to 99% of cases)
- Osteoarthritis of the small joints of the handHPOHP:0004268
- Very frequent (80% to 99% of cases)
- Short distal phalanx of fingerHPOHP:0009882
- Very frequent (80% to 99% of cases)
- Short middle phalanx of fingerHPOHP:0005819
- Very frequent (80% to 99% of cases)
- Shortening of all distal phalanges of the toes
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TRPV4HGNC:18083
- Supportive · Orphanet · Autosomal dominant · 2021