Osteomesopyknosis
Alternate names[edit | edit source]
Axial osteosclerosis
Definition[edit | edit source]
Osteomesopyknosis is a bone disorder characterized by abnormal hardening of bone (osteosclerosis).
Cause[edit | edit source]
The genetic cause has not yet been identified.
Inheritance[edit | edit source]
- Osteomesopyknosis is inherited in an autosomal dominant manner.
- This means that having only one mutated copy of the responsible gene (which has not yet been identified) is enough to cause signs or symptoms of the disorder. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to be affected.
- There have been reported cases where both parents of an affected person did not appear to have the condition.
- The chance of having signs and symptoms when the responsible mutation is present (penetrance), and potential nature of signs and symptoms (expressivity), is not clear.
Signs and symptoms[edit | edit source]
- Osteomesopyknosis may cause chronic, low-grade back pain in the thoracic (middle) and lumbar (lower) regions.
- It is considered a mild form of osteosclerosis and is usually found in young adults or teenagers.
- Height and intellect are not affected.
- Life expectancy in affected people is normal.
- There are cases of association with other findings such as ovarian sclerosis and lymphoma; however, it is uncertain whether they have been coincidental or features of the disorder.
Clinical presentation[edit | edit source]
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
- Increased bone mineral density(Increased bone density)
30%-79% of people have these symptoms
5%-29% of people have these symptoms
- Abnormal cortical bone morphology
- Abnormality of metabolism/[[homeostasis](Laboratory abnormality)
Diagnosis[edit | edit source]
Treatment[edit | edit source]
NIH genetic and rare disease info[edit source]
Osteomesopyknosis is a rare disease.
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