Presentation
Entire Body System
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Short Stature
The bone abnormalities also lead to short stature. Many affected individuals develop subcutaneous nodules, which are firm lumps of noncancerous tissue underneath the skin, especially on the soles of the feet. [ghr.nlm.nih.gov]
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Pain
In most cases of MONA, bone loss begins in the hands and feet, causing pain and limiting movement. [ghr.nlm.nih.gov]
Skin
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Subcutaneous Nodule
How a shortage of matrix metallopeptidase 2 leads to the other features of MONA, such as subcutaneous nodules and skin abnormalities, is unknown. [ghr.nlm.nih.gov]
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Hypertrichosis
Other features of MONA can include clouding of the clear front covering of the eye (corneal opacity), excess hair growth (hypertrichosis), overgrowth of the gums, heart abnormalities, and distinctive facial features that are described as "coarse." [ghr.nlm.nih.gov]
Eyes
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Corneal Opacity
Other features of MONA can include clouding of the clear front covering of the eye (corneal opacity), excess hair growth (hypertrichosis), overgrowth of the gums, heart abnormalities, and distinctive facial features that are described as "coarse." [ghr.nlm.nih.gov]
Musculoskeletal
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Osteoporosis
Most people with MONA develop low bone mineral density (osteopenia) and thinning of the bones (osteoporosis) throughout the skeleton. These abnormalities make bones brittle and more prone to fracture. [ghr.nlm.nih.gov]
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Arthritis
Multicentric osteolysis with nodulosis and arthropathy (MONA) with cardiac malformation, mimicking polyarticular juvenile idiopathic arthritis: case report and literature review. [ghr.nlm.nih.gov]
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Fracture
These abnormalities make bones brittle and more prone to fracture. The bone abnormalities also lead to short stature. [ghr.nlm.nih.gov]
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Osteopenia
Most people with MONA develop low bone mineral density (osteopenia) and thinning of the bones (osteoporosis) throughout the skeleton. These abnormalities make bones brittle and more prone to fracture. [ghr.nlm.nih.gov]
Prevention
The MMP2 gene mutations that cause MONA completely eliminate the activity of the matrix metallopeptidase 2 enzyme, preventing the normal cleavage of type IV collagen. [ghr.nlm.nih.gov]