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References OMIM Gene GeneReviews HGMD HGNC
last update : 23-09-2013
Symbol CMDR
Location 6q22.31
Name craniometaphyseal dysplasia, rare autosomal recessive type
Corresponding gene GJA1
Main clinical features
  • characterized by hypertelorism, hyperostosis and abnormal modeling, increased density of tubular bones and metaphyseal widening, especially of the lower limbs, more severe than the autosomal dominant type
  • sclerosing skeletal disorder with progressive hyperostosis of craniofacial bones
  • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    Type disease