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Diseases

Genetic and Rare Diseases Information Center (GARD)

Bent bone dysplasia syndrome


Other Names for this Disease
  • Bent bone dysplasia (BBD)-FGFR2 type
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Overview

Bent bone dysplasia syndrome is an often lethal skeletal disorder characterized by poor mineralization of the skull (calvarium), craniosynostosis, underdeveloped (hypoplastic) pubic bone (pubis) and clavicles, osteopenia, and bent long bones. [1] Unusual facial features include low-set ears, widely spaced eyes (hypertelorism), midface hypoplasia, prematurely erupted fetal teeth, and small chin (micrognathia).  This condition is associated with mutations in the FGFR2 gene.[2]
Last updated: 6/26/2014

References

  1. Merrill, AE, et.al.. Am J Hum Genet. March 9, 2012; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3309195/. Accessed 1/1/1900.
  2. Bent Bone Dysplasia Syndrome; BBDS. OMIM. April 25, 2012; http://www.omim.org/entry/614592. Accessed 11/7/2012.
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In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a 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. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Bent bone dysplasia syndrome. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

Other Names for this Disease
  • Bent bone dysplasia (BBD)-FGFR2 type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.