Dysostosis multiplex
Dysostosis Multiplex
Dysostosis multiplex (pronounced dis-oh-stoh-sis mul-ti-plex) is a medical term used to describe a group of skeletal abnormalities that are often seen in individuals with certain metabolic and lysosomal storage disorders. The term is derived from the Greek words dys meaning "bad" or "difficult," ostosis meaning "condition of the bone," and multiplex meaning "many."
Definition
Dysostosis multiplex refers to a pattern of skeletal abnormalities that are seen on X-ray and include thickened calvarium, abnormal shape and size of the vertebrae, shortened tubular bones, and dysplastic hip and elbow joints. These abnormalities are often seen in individuals with Mucopolysaccharidosis and other lysosomal storage disorders.
Symptoms
Symptoms of dysostosis multiplex can vary greatly depending on the underlying disorder. Common symptoms can include abnormal bone growth, joint deformities, facial abnormalities, and short stature. In severe cases, these abnormalities can lead to physical disabilities and organ damage.
Diagnosis
Diagnosis of dysostosis multiplex is typically made through a combination of clinical examination, X-rays, and genetic testing. The specific abnormalities seen on X-ray can often help to identify the underlying disorder.
Treatment
Treatment for dysostosis multiplex is primarily focused on managing the symptoms and improving quality of life. This can include physical therapy, surgery to correct bone deformities, and medication to manage any associated pain or other symptoms. In some cases, enzyme replacement therapy may be used to treat the underlying lysosomal storage disorder.
Related Terms
External links
- Medical encyclopedia article on Dysostosis multiplex
- Wikipedia's article - Dysostosis multiplex
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