Boomerang dysplasia

Boomerang dysplasia is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis ...1

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Symptoms of Boomerang dysplasia

Symptoms: The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. Signs and Symptoms

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Genetics of Boomerang dysplasia

Genetic Changes: Mutations in the FLNB gene cause boomerang dysplasia . The FLNB gene provides instructions for making a protein called filamin B. This protein helps build the network of protein filaments ( cytoskeleton ) that gives structure to cells and allows them ...2

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Names and Terminology

Other Names for This Condition

Source: GHR (NLM/NIH)3 ...

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ boomerang-dysplasia
  2. ibid.
  3. ibid.

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Note: This site is for informational purposes only and is not medical advice. See your doctor or other qualified medical professional for all your medical needs.