Axial osteosclerosis

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Axial osteosclerosis
Other namesOsteomesopyknosis
Specialty Orthopedics, medical genetics

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]

Contents

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. 1 2 3 4 "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.
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