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GENATLAS PHENOTYPE
last update : 13-10-2012
Symbol WINCH2
Location 14q11.2
Name Winchester syndrome 2
Corresponding gene MMP14
Main clinical features
  • vanishing bone syndrome
  • progressive bilateral and symmetric osteolysis of the carpals and tarsals, interphalangeal joint erosions mimicking rheumatoid arthritis, generalized osteoporosis, and eventual loss of function of the larger joints, including the shoulder, elbow, hip, and knee joints
  • gum hypertrophy, corneal opacities, and electrocardiographical findings suggestive of myocardial damage
  • Genetic determination autosomal recessive
    Function/system disorder eye
    osteo-articular
    Type disease
    Remark(s)