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Crouzonodermoskeletal syndrome

Crouzonodermoskeletal syndrome Causes

The root of Crouzonodermoskeletal syndrome are the mutations in FGFR3, the gene responsible for the production of a protein involved in developing and maintaining the tissues of our bones as well as our brain's. The mutation is believed to interrupt growth of the bones and alter skin pigmentation.

Crouzonodermoskeletal syndrome Definition

Crouzondermoskeletal syndrome is a rare disorder not unlike Crouzon syndrome because it is caused by specific bones in our skull that join prematurely. It is distinguished from Crouzon syndrome by other disorders that also afflict patients with Crouzondermoskeletal, such as skin condition acanthosis nigricans, which is characterized by dark and thick skin in our body folds, changes in the vertebrae on x-rays, and the probable development of noncancerous cementomas during adulthood..

Crouzonodermoskeletal syndrome Diagnosis

Doctors can easily detect Crouzondermoskeletal syndrome just by looking at the skin. In some cases, skin biopsy is required, while blood tests, endoscopy and x-rays are needed to eliminate other causes.

Crouzonodermoskeletal syndrome Symptoms and Signs

Crouzonodermoskeletal syndrome shares some symptoms with the disorder called Crouzon syndrome. Individuals afflicted with both diseases will have upper jaws that are underdeveloped, misshapen head and face, a beaked nose, eye sockets that are shallow, and bulging and wide-set eyes. They also tend to have normal intelligence.

Crouzonodermoskeletal syndrome Treatment

Treatments for the skin disorder may not be required.

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