Otospondylomegaepiphyseal dysplasia: A rare genetic disorder where abnormal bone growth causes hearing loss, skeletal abnormalities and characteristic facial features. More detailed information about the symptoms, causes, and treatments of Otospondylomegaepiphyseal dysplasia is available below.
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Prognosis for Otospondylomegaepiphyseal dysplasia: severe, progressive deafness and short stature, adults 120 cm
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Otospondylomegaepiphyseal dysplasia is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Otospondylomegaepiphyseal dysplasia, or a subtype of Otospondylomegaepiphyseal dysplasia,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Otospondylomegaepiphyseal dysplasia as a "rare disease".
Source - Orphanet
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