"Camptomelic syndrome is a rare genetic disorder that affects the development of certain bones in the body. It is most commonly found in children, but it can also affect adults. Camptomelic syndrome is diagnosed through a physical exam, and it can be confirmed with X-rays and/or CT scans. Camptomelic syndrome is caused by a mutation in the FGFR2 gene. This gene controls how your body grows bones, especially those of the hands and feet. When a pe  Read More

Cryoglobulinemia, essential mixed (EM) is a disorder in which your immune system makes antibodies that are not normally found in the blood and are unable to protect you from infections. These antibodies clump together and form abnormal proteins called cryoglobulins. The risk factors for this condition include: 1. Age: People who are older than 50 years old are more likely to develop cryoglobulinemia t  Read More

Degenerative disc disease is a condition caused by the wearing down of the discs in your spine. The discs are cushions between each vertebrae that help absorb shock and keep bones separated, but as they get older, they become less effective at doing this.Sciatica is a painful condition caused by compression of the nerve root at the lower end of your spine. This can cause pain or tingling in one or both legs, which is often worse wh  Read More

Dyschondrosteosis is a genetic disorder that causes abnormal bone growth. It can affect the shape of your bones, including your pelvis and spine. People with this condition may have short stature and have difficulty breathing due to an abnormally shaped chest. People with dyschondrosteosis typically have short arms and legs, a wide gap between their neck and trunk, an unusually shaped spine, an unusually curved pe  Read More

Jansen metaphyseal dysostosis is a rare genetic disorder that affects the development of the bones in children. The disorder causes abnormal bone growth, which can lead to fractures and deformities of the bones. 1. Jansen metaphyseal dysostosis is caused by a mutation of the CDKN1A gene. The gene provides instructions for making a protein called p16-INK4a, which plays an important role in cell growth and division.  Read More

There is no cure for Kniest chondrodystrophy, but there are some medications that can help control symptoms. The most common treatment is a drug called prednisone, which can be used to treat inflammation and swelling associated with the disease. Doctors will also often prescribe pain relievers like ibuprofen or acetaminophen to help manage symptoms like joint pain and stiffness. Treatment options include surgery,  Read More

The exact cause of Kohler disease is unknown. It may be genetic, but it could also be caused by a viral infection or exposure to certain medications. The condition can affect multiple parts of the body, including the skull and jawbones. Kohler's disease is characterized by thick, rough skin that peels easily, leading to pain and inflammation. The skin may be discolored and feel bumpy. The hair on the scalp may bec  Read More

Marfanoid hypermobility syndrome is a genetic condition that affects the connective tissue in the body. In many ways, it resembles the more common Marfan syndrome. However, while Marfan syndrome is a rare genetic disorder that can cause serious health problems and even death, marfanoid hypermobility syndrome is much less severe—it's estimated that fewer than 1% of people with Marfan syndrome actually have this condition.  Read More

Ollier osteochondromatosis is a condition that affects the bones and joints of the body. It causes the bones to grow abnormally, and can lead to problems with mobility and pain. The severity of Ollier's disease varies from person to person, but there are some risk factors that can increase your chances of developing it. The exact cause of Ollier's disease is unknown. However, there are some risk factors that may i  Read More

Panmyelopathy describes a collection of symptoms that result from severe spinal compression. When something compresses (squeezes) the spinal cord, it can’t function properly. That can lead to pain, loss of feeling, or difficulty moving certain parts of the body. 1. The spine encases the spinal cord — a collection of nerves that carry messages between your brain and body. 2. Usually, the bones of  Read More

Symptoms of Roussy-Lévy Syndrome are similar to other hereditary motor sensory neuropathies in that there is weakness and atrophy of the leg muscles with some loss of feeling. People with this syndrome have difficulty walking and a lack of reflexes and deformity of the foot or feet (pes cavus). Roussy-Lévy differs, however, from other hereditary motor sensory neuropathies because of the very early onset of the disorder during chi  Read More

Wieacker syndrome is a rare, slowly progressive, genetic disorder characterized by deformities of the joints of the feet (contracture), muscle degeneration (atrophy), mild mental retardation and an impaired ability to move certain muscles of the eyes, face and tongue. Wieacker syndrome is inherited as an X-linked recessive trait.  Read More

A skin condition called xanthoma tuberosum is where specific fats begin to build under the surface of the skin. A branched-out type of Xanthoma is Xanthoma Tuberosum. Here, Xanthoma accumulates in the areas close-by joints. It is affiliated with lipid disorders, liver cirrhosis, and some thyroid disorders.Symptoms of Xanthoma Tuberosum are as follows:1. Firm, elevated wax-like in appearance2  Read More