Acroosteolysis dominant type: Overview

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, skull deformities, and curvature of the spine (scoliosis). The abnormalities associated with this condition may lead to short stature. Loss of bone (osteolysis) in the hands and feet is a characteristic feature of this condition. Other features of AOD may include distinctive facial features, loose joints, dental problems, excess body hair, recurrent infections, heart defects, and kidney abnormalities. AOD is caused by mutations in the NOTCH2 gene. The mutation can be inherited from a parent, or it can be the result of a new mutation in the affected individual. [1, 2][3, 4] Though osteoporosis and respiratory dysfunction can cause problems for individuals with this condition, life expectancy is typically normal.[2] Last updated: 4/29/2016

Source: GARD (NIH)1

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References

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

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