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Diseases

Genetic and Rare Diseases Information Center (GARD)

Other Names for this Disease
  • DBQD
  • Desbuquois dysplasia
  • Micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification
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Cause


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What causes Debuquois syndrome?

In some individuals with Desbuquois syndrome, particularly those with hand abnormalities only, the disorder is caused by mutations in the CANT1 gene. However, it has been found that this gene does not account for individuals with Desbuquois syndrome and "normal"  hands, suggesting that there may be other unidentified genes that may also cause the condition.
Last updated: 6/14/2011

References
  1. Laurence Faivre and Valerie Cormier-Daire. Debuquois syndrome. Orphanet. February 2005; http://www.orpha.net/data/patho/Pro/en/Desbuquois-FRenPro1631.pdf. Accessed 6/14/2011.