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Genetic and Rare Diseases Information Center (GARD)

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Thanatophoric dysplasia

Other Names for this Disease
  • Dwarfism thanatophoric
  • Thanatophoric Dwarfism
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What causes thanatophoric dysplasia?

Thanatophoric dysplasia is caused by mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Mutations in this gene cause the FGFR3 protein to be overly active, which leads to the severe disturbances in bone growth that are seen in thanatophoric dysplasia. It is not known how FGFR3 mutations cause the brain and skin abnormalities associated with this disorder.[1]
Last updated: 12/13/2012

  1. Thanatophoric dysplasia. Genetics Home Reference (GHR). October 2012; Accessed 12/13/2012.