Lobstein syndrome is a genetic condition that causes brittle bones, affecting over 20,000 people in the US. There is no cure, but symptoms can be managed through physical therapy, exercise, and healthy habits. Severe cases may require medical devices or surgery.
Lobstein syndrome, also known as brittle bone disease and osteogenesis imperfecta, is a condition in which an individual’s bones become very brittle. A genetic condition, the severity of Lobstein syndrome varies, as there are eight types of Lobstein syndrome. The disease, often characterized by blue eyes, multiple bone fractures and hearing loss, affects more than 20,000 people each year in the United States. While there is no cure, a person with the condition can still lead a productive life.
A congenital disorder, Lobstein syndrome is the result of many genes responsible for collagen — a building block for making bones — not working properly, leading to brittle bones. A child often inherits malfunctioning genes from a parent, and in some cases, the condition is a result of the gene breaking down after a child is conceived. An individual with Lobstein syndrome runs the risk of passing the malfunctioning gene and the disease on to their offspring. About 15% of cases of the syndrome are caused by a recessive mutation when both parents carry the recessive gene.
The symptoms of osteogenesis imperfecta can be mild or severe, depending on the person. A person with brittle bone disease typically has loose joints and flat feet. The condition causes an individual to develop a triangular face, be short in stature, and have malformed bones. Additionally, the syndrome can cause a person to have brittle teeth, respiratory distress, an oddly shaped rib cage, and hearing loss can develop in their 20s and 30s. A person with brittle bone disease may have more severe symptoms, including bent legs and arms and curvature of the spine.
While there is no cure, Lobstein syndrome can be controlled. Treatment seeks to minimize or control symptoms and increase bone mass and muscle strength. Individuals with the syndrome often undergo physical therapy and keep active through exercise. Walking and swimming are common physical activities for people with the condition, as these exercises have minimal chances of causing bone fractures. Individuals with the syndrome may also maintain weight through other activities that promote bone mass, such as eating healthily, refraining from smoking, and reducing alcohol and caffeine intake.
People with Lobstein syndrome typically manage the condition by tending to broken bones and having dental procedures to fix brittle teeth. Individuals with more severe forms of the condition can often use mobile devices such as wheelchairs or leg braces. In some cases, metal rods are inserted into patients’ long bones to improve the bones and correct abnormalities.
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