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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Bent bone dysplasia syndrome


Other Names for this Disease

  • Bent bone dysplasia (BBD)-FGFR2 type
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Overview

What is bent bone dysplasia syndrome?

What is bent bone dysplasia syndrome?

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.


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.