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Thickened earlobes-conductive deafness syndrome
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Thickened earlobes-conductive deafness syndrome

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Thickened earlobes-conductive deafness syndrome
Other names Escher-Hirt syndrome, Schweitzer Kemink Graham syndrome
Autosomal dominant - en.svg
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 -

Thickened earlobes-conductive deafness syndrome, also known as Escher-Hirt syndrome, or Schweitzer Kemink Graham syndrome, is a rare genetic disorder which is characterized by ear and jaw abnormalities associated with progressive hearing loss. Two families worldwide have been described with the disorder.

Presentation

People with the disorder often have the following symptoms:

Ear/Auditory

Jaw

Etiology

Escher et al. described a family with dominantly inherited conductive deafness caused by ear anomalies in 1968 and Wilmot et al. described another family with the same symptoms and mode of inheritance in 1970,Schweitzer et al described the symptoms and declared a novel syndrome in 1984.


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