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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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Bent bone dysplasia syndrome is a 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: 11/7/2012


  1. Merrill, AE, Am J Hum Genet. March 9, 2012; Accessed 1/1/1900.
  2. Bent Bone Dysplasia Syndrome; BBDS. OMIM. April 25, 2012; Accessed 11/7/2012.
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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. 
  • 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