| Symbol
| FDAB
|
| Location
| 12q24
|
| Name
|
digital arthropathy-brachydactyly, familial |
| Corresponding gene
|
TRPV4
|
| Main clinical features
|
earliest changes appear during the first decade of life and involve irregularities in the proximal articular surfaces of the distal interphalangeal joints of the hand
progressive brachydactyly of the middle and distal phalanges of the hands and feet, with onset in the first decade of life
osteoarthropathy restricted to the fingers and toes |
| Genetic determination
| autosomal dominant |
| Function/system disorder
| osteo-articular |
| Type
| disease
|
| Gene mutation | Chromosome rearrangement | Effect | Comments |
|
|---|
| various types
|
| abnormal protein/loss of function
|
| |