National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Bent bone dysplasia syndrome


Other Names:
Bent bone dysplasia (BBD)-FGFR2 type
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

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
5%-29% of people have these symptoms
Hepatosplenomegaly
Enlarged liver and spleen
0001433
Percent of people who have these symptoms is not available through HPO
Abnormally large globe
Increased size of eyes
Large eyes
[ more ] 		0001090
Autosomal dominant inheritance 0000006
Bell-shaped thorax 0001591
Brachydactyly
Short fingers or toes
0001156
Clitoral hypertrophy
Enlarged clitoris
0008665
Coronal craniosynostosis 0004440
Gingival overgrowth
Gum enlargement
0000212
Hirsutism
Excessive hairiness
0001007
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Low-set ears
Low set ears
Lowset ears
[ more ] 		0000369
Malar flattening
Zygomatic flattening
0000272
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ] 		0000347
Midface retrusion
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] 		0011800
Short clavicles
Short collarbone
0000894
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Last updated: 7/1/2020

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Bent bone dysplasia syndrome. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Bent bone dysplasia syndrome:
    International Skeletal Dysplasia Registry (ISDR)
     

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

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

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