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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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Overview


Desbuquois syndrome is a rare type of osteochondrodysplasia (a disorder of the development of bones and cartilage). Characteristics may vary in severity and can include short stature with short extremities, joint laxity, kyphoscoliosis, distinctive facial characteristics and other abnormalities.[1] There is evidence that in some individuals (those with hand abnormalities only), it is caused by mutations in the CANT1 gene. It is inherited in an autosomal recessive manner.[2] Treatment for the condition is geared towards the individual signs and symptoms present in each individual.[1]
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.
  2. Nara Sobreira et al. DESBUQUOIS DYSPLASIA; DBQD. OMIM. December 14, 2009; http://www.ncbi.nlm.nih.gov/omim/251450. Accessed 6/14/2011.
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In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Desbuquois syndrome. Click on the link to view a sample search on this topic.