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Diseases

Genetic and Rare Diseases Information Center (GARD)

Brachydactyly type B


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Your Question

Can having a left foot that is missing the three middle toes and with two other underdeveloped toes be inherited? Can it be genetically transmitted? 

Our Answer

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

What is brachydactyly type B?

Brachydactyly type B is a very rare genetic condition characterized by disproportionately short fingers and toes. The ends of the second and fifth fingers are usually underdeveloped with complete absence of the fingernails. The thumb bones are always intact but are frequently flattened and/or split. The feet are usually similarly affected, but less severely. Other features that may be present include webbed fingers (syndactyly) and fusion of the joints (symphalangism) and bones in the hands and feet. Only a few cases have been reported in the literature. This condition is caused by mutations in the ROR2 gene. Most cases have been shown to be inherited in an autosomal dominant fashion.[1]
Last updated: 6/6/2011

How is brachydactyly type B inherited?

Brachydactyly type B is caused by mutations in the ROR2 gene. It is inherited in an autosomal dominant fashion, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Individuals with brachydactyly type B have a 50% chance of passing on this condition to their children.[1]
Last updated: 6/6/2011

How can I find a genetics professional in my area?

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.
Last updated: 7/15/2016

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