I have a 9 year old patient with this disorder who has hearing loss. Is hearing loss associated with this disorder? If so, is the hearing loss progressive? Is the loss sensorineural, conductive, or mixed?
Multiple epiphyseal dysplasia (MED) is not typically associated with hearing loss. Hearing loss was described in one family in 1978, in which the mother and three of her children had bone changes representing MED; progressive myopia (nearsightedness); and conductive deafness. Bilateral mixed hearing loss and MED was described in another person due to a complex genomic rearrangement on chromosome 6p25; this person also had myopia, Duane retraction syndrome; global developmental delay; and other skeletal anomalies. Cystic ear swelling (but not hearing loss) was once reported in a person with the less frequent autosomal recessive MED. Despite these occurrences, hearing loss is generally not considered a feature of MED. However, hearing loss is described as a feature of various other types of skeletal dysplasia.
Last updated: 6/3/2015
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