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GENATLAS PHENOTYPE
last update : 06-11-2017
Symbol ECDMM2
Location 12p11.22
Name enchondromatosis, multiple 2
Corresponding gene PTHLH
Main clinical features
  • enchondromas skeletal deformity and potential malignant change to osteosarcoma
  • these cartilaginous lesions have an asymmetric distribution, but important variability is seen in the age of onset of the disease and the size, number, location and evolution of the enchondromas
  • absence of platyspondyly or skull deformity
  • Genetic determination autosomal dominant
    Function/system disorder osteo-articular
    Type disease
    Remark(s)