Brittle bone disease is a skeletal disease that is evidenced by very fragile bones that fracture easily. These broken bones often take place under loads that normal bones stand up under without difficulty.
Brittle bone disease is a connective tissue disease. It results from a malfunction in your body’s production of the protein collagen. With brittle bone disease, the amount of the collagen that is made by your body is too little, or the quality is too poor.
Brittle bone disease is a fairly rare disease. Somewhere between 20,000 and 50,000 people in the United States are affected by this disease. Brittle bone disease develops with equal frequency among all ethnic and racial groups and among women and men.
There are four main types of brittle bone disease. Type I is the mildest and most common form of the disease. Signs and symptoms of Type I include:
Scoliosis (curvature of the spine)
Triangular-shaped face
Fragile bones
Hearing loss beginning in your 20s
Thin, smooth skin
Low muscle tone
Brittle teeth
Loose joints
Blue sclerae (whites of the eye).
Type II, brittle bone disease accounts for about 10% of the people with this disease.
This is the most severe form of the disease. This type of brittle bone disease often causes death at or shortly after birth.
About 20% of the people with brittle bone disease have Type III. People with this form of the disease frequently have 100 fractures by the time they reach puberty. Signs and symptoms of Type III are:
Sclera that have a purple, gray or blue tint
Curvature of the spine (scoliosis)
Loose joints
Possible respiratory problems
Soft bones that bend, as well as break, easily
Triangular-shaped face
Possible hearing loss
Barrel-shaped rib cage
Poor tooth development that often causes your teeth to be brittle and discolored
Short stature
Poor muscle development.
The severity of Type IV is somewhere between Type I and Type III. Breaks usually take place before puberty with the exception of women after menopause. Some of the signs and symptoms of brittle bone disease Type IV include:
Below average height
Mild to moderate bone deformity
Easily overstretched, loose joints
Scoliosis (curvature of the spine)
Barrel-shaped ribcage
Possible hearing loss
Triangular-shaped face
Possible brittle teeth.
Related articles
- Kids and Scoliosis (everydayhealth.com)
- Kahler’s Disease and Receiving Social Security Disability (socialsecurityhome.com)





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