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References OMIM Gene GeneReviews HGMD HGNC
last update : 24-12-2012
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 mutationChromosome rearrangementEffectComments
    various types   abnormal protein/loss of function