Hajdu-Cheney syndrome

Hajdu-Cheney syndrome is a rare disorder that can affect many parts of the body, particularly the bones. Loss of bone tissue from the hands and feet (acro-osteolysis) is a characteristic feature of the condition. The fingers and toes ...1

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Symptoms of Hajdu-Cheney syndrome

Clinical features: Imported from Human Phenotype Ontology (HPO)

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Types of Hajdu-Cheney syndrome

Some types of this condition may include:2 Types of Hajdu-Cheney syndrome:

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Genetics of Hajdu-Cheney syndrome

Genetic Changes: Hajdu-Cheney syndrome is associated with mutations in the NOTCH2 gene. This gene provides instructions for making a receptor called Notch2. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks ...3

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Names and Terminology

Other Names for This Condition

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ hajdu-cheney-syndrome
  2. Source: NCI Thesaurus
  3. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ hajdu-cheney-syndrome

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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.