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Osteomesopyknosis
Disease definition
Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content.
ORPHA:2777
Summary
Epidemiology
The prevalence and incidence of this disorder are not known. It has been reported in fewer than 5 families, primarily in France.
Clinical description
Osteomesopyknosis may be underdiagnosed due to confusion with autosomal dominant osteopetrosis (Albers-Schönberg osteopetrosis, see this term). The condition is usually found incidentally on radiological examination and is very mild, sometimes accompanied by pain. Increased density of the vertebral plates, pelvis and occasionally of the upper femur have been reported, as well as kyphoscoliosis and femoral cysts.
Etiology
The genetic basis underlying the disorder is not known.
Genetic counseling
The disorder appears to follow an autosomal dominant pattern of inheritance.
Detailed information
Article for general public
Professionals
- Summary information
- Polski (2012, pdf)
- Anesthesia guidelines
- English (2016, pdf)
Additional information