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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 30-08-2010
Symbol CMDJ
Location 5p15.2
HGNC id 2112
Name craniometaphyseal dysplasia
Other name(s) craniometaphyseal dysplasia, Jackson type
Corresponding gene ANKH
Other symbol(s) CMDD
Main clinical features
  • characterized by hypertelorism, hyperostosis and abnormal modeling, increased density of tubular bones and metaphyseal widening, especially of the lower limbs, dominant type
  • associated in any cases with facial palsy, progressive conductive hearing loss, and generalized undermodeling of tubular bones (Kornak 2010)
  • Genetic determination autosomal dominant
    Function/system disorder osteo-articular
    Type disease
    Gene product
    Name ankylosis progressive (mouse) homolog
    Remark(s) mutations cluster in a small region of the ANKH protein causing thickening of bones without major effects on joints