Atelosteogenesis type 3

Atelosteogenesis type 3 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 ...1

... More on Atelosteogenesis type 3 »

   •   •   •

Back to: « Atelosteogenesis

Symptoms of Atelosteogenesis type 3

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

... More Symptoms of Atelosteogenesis type 3 »

Genetics of Atelosteogenesis type 3

Genetic Changes: Mutations in the FLNB gene cause atelosteogenesis type 3 . 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 ...2

... More on Genetics of Atelosteogenesis type 3 »

Names and Terminology

Other Names for This Condition

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

... More General Information on Atelosteogenesis type 3 »

   •   •   •

References

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

   •   •   •

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.