Lobstein syndrome, also known as brittle bone disease and osteogenesis imperfecta, is a condition in which an individual's bones become very fragile. A genetic condition, the severity of Lobstein syndrome varies, as eight types of Lobstein syndrome exist. The disease, often characterized by blue tinted eyes, multiple bone fractures, and hearing loss, affects more than 20,000 people annually in the United States. While no cure exists, a person with the condition may still lead a productive life.
A congenital disease, Lobstein syndrome is the result of many genes that are responsible for collagen — a building block for making bone — not working correctly, which leads to fragile bones. A child often inherits malfunctioning genes from one parent and in some instances, the condition is the result of the gene breaking down after the conception of a child. An individual with Lobstein syndrome runs the risk of passing the malfunctioning gene and disease to his offspring. About 15 percent of cases of the syndrome are caused by recessive mutation when both parents carry the recessive gene.
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 also causes an individual to develop a triangular face, be short in stature, and have malformed bones. In addition, the syndrome can cause a person to have fragile teeth, respiratory ailments, an odd-shaped rib cage, and hearing loss can develop in a person's 20s or 30s. A person with brittle bone disease can have more severe symptoms, including bowed legs and arms and curvature of the spine.
While a cure does not exist, Lobstein syndrome can be controlled. Treatment seeks to minimize or control symptoms and enhance 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 those exercises have minimal chances for causing bone fractures. Individuals with the syndrome can also maintain weight through other activities that promote bone mass, such as eating healthy, refraining from smoking, and reducing alcohol and caffeine intake.
People with Lobstein syndrome typically manage the condition through tending to broken bones and undergoing dental procedures to fix brittle teeth. Individuals with more severe forms of the condition may often use mobile devices such as wheelchairs or leg braces. In some instances, metal rods are inserted in long bones in patients in order to enhance the bones and correct abnormalities.