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

Your Question

I was pregnant with twins who were diagnosed with thanatophoric dysplasia. What are the chances that I will have another pregnancy affected by this condition?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

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

Is thanatophoric dysplasia inherited?

Thanatophoric dysplasia is considered an autosomal dominant disorder because one mutated copy of the FGFR3 gene in each cell causes the condition. However, almost 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, so the disorder has not been passed to the next generation.[1]
Last updated: 6/5/2014

What are the chances that I will have another pregnancy affected by thanatophoric dysplasia?

Most parents who have had a child with thanatophoric dysplasia are not at increased risk of having another child with the condition. The mutation that causes thanatophoric dysplasia is almost always a new mutation that was not inherited from either parent. There is a very rare possibility that a healthy parent could have the mutation only in their reproductive cells (called germline mosaicism), but there have been no reports of this situation. Prenatal testing to diagnose thanatophoric dysplasia is available through ultrasound examination and molecular genetic testing.[2]
Last updated: 6/5/2014

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
Last updated: 6/5/2014

References
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.