Thickened earlobes-conductive deafness syndrome

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Thickened earlobes-conductive deafness syndrome
Other namesEscher-Hirt syndrome, Schweitzer Kemink Graham syndrome
Autosomal dominant - en.svg
Specialty Medical genetics
Symptoms Ear, auditory, and jaw anomalies
Complications Hearing loss
Usual onsetEarly infancy, but whether or not the symptoms will show up is congenital
DurationLife-long
Preventionnone
Prognosis Ok
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, [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]

Contents

Presentation

People with the disorder often have the following symptoms: [4]

Ear/Auditory

Jaw

Etiology

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]

References

  1. ↑ "Thickened earlobes-conductive deafness syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Archived from the original on August 7, 2020. 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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