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Diseases

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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Inheritance


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Is thanatophoric dysplasia inherited?

Thanatophoric dysplasia is considered an autosomal dominant disorder because one mutated copy of the FGFR3 gene in each cell is sufficient to cause the condition. However, virtually all cases of thanatophoric dysplasia are caused by new mutations in the FGFR3 gene and occur in people with no history of the disorder in their family.[1][2] No affected individuals are known to have had children; therefore, the disorder has not been passed to the next generation.[1]
Last updated: 12/13/2012

References
  1. Thanatophoric dysplasia. Genetics Home Reference (GHR). October 2012; http://ghr.nlm.nih.gov/condition/thanatophoric-dysplasia. Accessed 12/13/2012.
  2. Karczeski B, Cutting GR. Thanatophoric Dysplasia. GeneReviews. September 2008; http://www.ncbi.nlm.nih.gov/books/NBK1366/. Accessed 12/13/2012.