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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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What is bent bone dysplasia syndrome?

What is bent bone dysplasia syndrome?

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.