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Medical condition From Wikipedia, the free encyclopedia
Thickened earlobes-conductive deafness syndrome, also known as Escher-Hirt syndrome, or Schweitzer Kemink Graham syndrome,[1] is a rare genetic disorder which is characterized by ear and jaw abnormalities associated with progressive hearing loss.[2] Two families worldwide have been described with the disorder.[3]
Thickened earlobes-conductive deafness syndrome | |
---|---|
Other names | Escher-Hirt syndrome, Schweitzer Kemink Graham syndrome |
Specialty | Medical genetics |
Symptoms | Ear, auditory, and jaw anomalies |
Complications | Hearing loss |
Usual onset | Early infancy, but whether or not the symptoms will show up is congenital |
Duration | Life-long |
Prevention | none |
Prognosis | Ok |
Frequency | very rare, only 2 families worldwide are known to have the disorder |
Deaths | - |
People with the disorder often have the following symptoms:[4]
Escher et al. described a family with dominantly inherited conductive deafness caused by ear anomalies in 1968[5] and Wilmot et al. described another family with the same symptoms and mode of inheritance in 1970,[6] Schweitzer et al described the symptoms and declared a novel syndrome in 1984.[7]
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