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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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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 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

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

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

Risk of recurrence for parents who have had an affected child is not significantly increased over that of the general population. Germline mosaicism (when a mutation is present only in reproductive cells) in healthy parents, although not previously reported, is still a theoretical possibility. Prenatal diagnosis is possible through ultrasound examination and molecular genetic testing.[2]
Last updated: 12/13/2012

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:  

  • GeneTests has a searchable directory of US and international genetics and prenatal diagnosis clinics.
  • The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
  • The American College of Medical Genetics has a searchable database of US genetics clinics.  
  • The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
Last updated: 12/13/2012

References