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GENATLAS PHENOTYPE

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)