Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 01-08-2009
Symbol SYNS3
Location 13q12.11
Name multiple synostoses 3
Corresponding gene FGF9
Main clinical features
  • disorder characterized by the joint fusions that commonly involve proximal interphalangeal, carpal-tarsal, humeroradial, and cervical spine joints
  • fusions of proximal interphalangeal, carpal-tarsal, and humeroradial joints
  • Genetic determination autosomal dominant
    Function/system disorder osteo-articular
    Type malformation
    Remark(s) mutation leads to significantly impaired FGF signaling, as evidenced by diminished activity of Erk1/2 pathway and decreased beta-catenin and c-Myc expression (Wu 2009)