Acroosteolysis dominant type

Summary: Acroosteolysis dominant type (AOD), also known as Hajdu-Cheney syndrome, is a condition characterized by bone abnormalities throughout the body. The signs and symptoms of this disorder vary greatly but may include osteoporosis (loss of bone mass), compression fractures ...1

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Symptoms of Acroosteolysis dominant type

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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Causes of Acroosteolysis dominant type

Cause: Acroosteolysis dominant type is caused by mutations in the NOTCH2 gene. It is inherited in an autosomal dominant manner. However, most cases result from a new mutation and occur in people with no family history of the condition.[1 ...2

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Genetics

See also genetics of related diseases:

Names and Terminology

Other Names: Acroosteolysis with osteoporosis and changes in skull and mandible; Arthrodentoosteodysplasia; Cheney syndrome; Acroosteolysis with osteoporosis and changes in skull and mandible; Arthrodentoosteodysplasia; Cheney syndrome ...3

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References

  1. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 508/ acroosteolysis-dominant-type
  2. ibid.
  3. ibid.

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