Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Thanatophoric dysplasia


Other Names for this Disease

  • Dwarfism thanatophoric
  • Thanatophoric Dwarfism
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Cause

Newline Maker

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 problems with 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: 6/5/2014

References
  1. Thanatophoric dysplasia. Genetics Home Reference (GHR). October 2012; http://ghr.nlm.nih.gov/condition/thanatophoric-dysplasia.


Other Names for this Disease
  • Dwarfism thanatophoric
  • Thanatophoric Dwarfism
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.