Osteomesopyknosis

Alternate names

Axial osteosclerosis

Definition

Osteomesopyknosis is a bone disorder characterized by abnormal hardening of bone (osteosclerosis).

Cause

The genetic cause has not yet been identified.

Inheritance

Autosomal dominant pattern, a 50/50 chance.

• 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

• 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

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

• Abnormal form of the vertebral bodies
• Kyphosis(Hunched back)
• Sclerotic vertebral body
• Scoliosis

5%-29% of people have these symptoms

• Abnormal cortical bone morphology
• Abnormality of metabolism/[[homeostasis](Laboratory abnormality)

NIH genetic and rare disease info

• NIH info on Osteomesopyknosis

Osteomesopyknosis is a rare disease.

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