Definition:
Otospondylomegaepiphyseal dysplasia, or otherwise known as OSMED is categorized as a genetic disorder of the bone growth. This disorder often results in serious skeletal abnormalities, accompanied by severe hearing loss as well as distinctive facial features. People suffering from this disease often experience pain on the joints and back and are only capable of limited joint movement.
Diagnosis:
The distinctive characteristics of OSMED typcailly include some severe joint and bone problems as well as very severe hearing loss. Physical examination and medical history are among the primary methods for diagnosing OSMED.
Treatment:
Since this is a genetic disease, there is no known cure for OSMED. Treatments are primarily targeted to manage the symptoms such as improving the patient's hearing and some mobility aids for the patient.
Symptoms and Signs:
Among the most common symptoms associated with OSMED includes abnormal vertebral size and/or shape, deafness, flattened nose, restricted joint mobility, metaphyseal anomaly, carpal bone fusion. Lordosis, and cleft palate.
Causes:
The primary cause of this medical disorder is directly related to the mutations found in the COA11A2 gene that causes OSMED. This gene is among the several genes that primarily provides instruction in the production of XI collagen.
:
otospondylomegaepiphysealdysplasia
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