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Lobstein Syndrome and Receiving Social Security Disability

Lobstein syndrome is a skeletal disease that is marked by having extremely fragile bones that fracture (break) easily. These broken bones often occur under loads that would not cause normal bones to fracture. Lobstein syndrome is a connective tissue disease. Lobstein syndrome takes place as a result of malfunction in your body’s production of the protein collagen. In the case of lobstein syndrome, the quality of the collagen that is produced by your body is too poor, or the amount is too little. Lobstein syndrome is a fairly rare disease. Somewhere around 20,000 to 50,000 people are afflicted with this disease in the United States. Lobstein syndrome takes place with equal frequency among men and women. It also occurs with equal frequency among all racial and ethnic groups. Lobstein syndrome is an inherited disease. It is usually inherited in what is known as an autosomal dominant pattern. This means that you may have lobstein syndrome even though only one defective gene has been passed down to you. This faulty gene may be passed down to you by either one of your parents, and it can affect either sex. Each child of an affected parent will have a 50 percent chance of getting lobstein syndrome. There are instances where you may have lobstein syndrome even though neither of your parents were carrying the defective gene. This is known as a spontaneous mutation. If you get lobstein syndrome in this manner, you will have the same chance of passing it on to your child as a person does who inherits the faulty autosomal dominant gene. There are four main types of lobstein syndrome. Type I is the most common and mildest form of the disease.

Signs and symptoms of Type I lobstein syndrome are:

Type II, lobstein syndrome is responsible for about 10% of the cases of this disease.  This is the most severe kind of lobstein syndrome. This form of the disease often results in death at or shortly after birth. About 20% of the people with lobstein syndrome have Type III. People with this kind of the disease frequently have 100 bone fractures by the time they reach puberty.

Signs and symptoms of Type III Lobstein syndrome include:

The severity of Type IV lies somewhere between Type I and Type III. Fractures usually occur before puberty with the exception of women after menopause.

Some of the signs and symptoms of lobstein syndrome Type IV are: