Axial osteosclerosis

Axial osteosclerosis, also known as osteomesopyknosis, is a bone disorder that causes osteosclerosis on the axial spine, pelvis and proximal part of the long bones. It is an autosomal-dominant disease. As of 2024, the exact causes were unknown.[1]

Population estimation

Fewer than 1000 people have this bone disorder in the United States.[1]

Symptoms

This bone disorder can begin to appear in the first years of life, as well as in adulthood.[1] It may present with thoracic pain,[2] kyphosis, scoliosis, vertebral body sclerosis, increased bone density, as well as abnormalities in the cortical bone and vertebrae.[1]

References

  1. ^ a b c d "Osteomesopyknosis – About the Disease – Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2024-03-09.
  2. ^ Maroteaux, P. (March 1980). "[Osteomesopycnosis. A new autosomal dominant osteosclerosing bone disease (author's transl)]". Archives Françaises de Pédiatrie. 37 (3): 153–157. ISSN 0003-9764. PMID 7469692.