Axial osteosclerosis explained

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.

Symptoms

This bone disorder can begin to appear in the first years of life, as well as in adulthood. 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.

Notes and References

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