Definition:
This is also known as Otospondylomegaepiphyseal dysplasia (OSMED) and is an autosomal recessive disorder that affects bone growth resulting in skeletal abnormalities and a host of other complications. severe hearing loss, and distinctive facial features. As the name suggests, the condition affects not only the skeletal structure, but also hearing.
Diagnosis:
Diagnosis as typical of genetically acquired conditions is based on family history as well as physical observations; patients with the condition are generally shorter (dwarfism) with short limbs with other skeletal abnormalities such as enlarged joints, very short hands and fingers, with distinct facial features such as protruding eyes; sunken nasal bridge; upturned nose with a rounded tip; and small lower jaw. Some are born with cleft palates.
Treatment:
Again, there is no cure and treatment is usually based on specific symptoms. Rehabilitative efforts are done for those experiencing severe joint or arthritic pain which can be debilitating
Symptoms and Signs:
Symptoms in people with the disorder initially experience back and joint pain, a restriction or limitation of joint movement and even arthritis all of which appear earlier in life. At some point, acute high tone hearing loss can happen in most cases.
Causes:
Because the disease is extremely rare, frequency studies have been unable to pinpoint the exact cause. But one thing is clear about the disorder; that mutations in the COL11A2 gene cause the disorder. The mutations prevent the formation of collagen that is crucial to the normal development of the bones and connective tissues. Being an inherited autosomal recessive pattern disease, genetics either create carriers or those who develop the full blown disorder.
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