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Thickened earlobes-conductive deafness syndrome

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Medical condition
Thickened earlobes-conductive deafness syndrome
Other namesEscher-Hirt syndrome, Schweitzer Kemink Graham syndrome
SpecialtyMedical genetics
SymptomsEar, auditory, and jaw anomalies
ComplicationsHearing loss
Usual onsetEarly infancy, but whether or not the symptoms will show up is congenital
DurationLife-long
Preventionnone
PrognosisOk
Frequencyvery 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.

References

  1. "Thickened earlobes-conductive deafness syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-31.
  2. RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Thickened earlobes conductive deafness syndrome". www.orpha.net. Retrieved 2022-05-31.{{cite web}}: CS1 maint: numeric names: authors list (link)
  3. "OMIM Entry - % 128980 - EARLOBES, THICKENED, WITH CONDUCTIVE DEAFNESS FROM INCUDOSTAPEDIAL ABNORMALITIES". omim.org. Retrieved 2022-05-31.
  4. "Thickened earlobes-conductive deafness syndrome (Concept Id: C1851896) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-05-31.
  5. Escher, F.; Hirt, H. (January 1968). "Dominant hereditary conductive deafness through lack of incus-stapes junction". Acta Oto-Laryngologica. 65 (1): 25–32. doi:10.3109/00016486809120938. ISSN 0001-6489. PMID 5657116.
  6. Wilmot, T. J. (1970). "Hereditary conductive deafness due to incus-stapes abnormalities and associated with pinna deformity". The Journal of Laryngology and Otology. 84 (5): 469–479. doi:10.1017/s0022215100072121. ISSN 0022-2151. PMID 5428055. S2CID 33070377.
  7. Schweitzer, V. G.; Kemink, J. L.; Graham, M. D. (1984). "Conductive hearing loss, middle ear ossicular anomalies, malformed thickened lop auricles, and micrognathia. A rare autosomal dominant congenital syndrome". The American Journal of Otology. 5 (5): 387–391. ISSN 0192-9763. PMID 6476090.
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