Axial osteosclerosis
Axial osteosclerosis, also known as osteomesopyknosis, is a bone disorder characterized by abnormal bone hardening of the bone. It is generally limited to the axial spine, pelvis and proximal part of the long bones, which is why it is profoundly distinct in comparison to other bone disorders. Osteomesopyknosis is inherited in an autosomal dominant manner but the genetic cause has not yet been identified.[1]
Population estimation[edit]
Fewer than 1000 people have this bone disorder in the United States.[1]
Symptoms[edit]
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]
References[edit]
- ^ a b c "Osteomesopyknosis – About the Disease – Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2024-03-09.
- ^ 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.