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References OMIM Gene GeneReviews HGMD HGNC
last update : 03-06-2009
Symbol OMD
Location 13q31.3
Name omodysplasia
Corresponding gene GPC6
Main clinical features
  • proxlimally shortened limbs, facial dysmorphism, and severe short stature
  • radiologically, proximal limbs shoretnin, distal tapering of long tubular bones, proximal radioulnar diastasis and antero-lateral dislocation of radial head
  • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    Type disease
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function  
    Remark(s) mutation abrogating function of HSPG in the growth plate and cause altered growth-factor signaling, leading to failure of proliferative chondrocytes terminal differentiation and long bone growth retardation (Campos-xavier 2009)