Thickened earlobes-conductive deafness syndrome explained

Thickened earlobes-conductive deafness syndrome
Synonyms:	Escher-Hirt syndrome, Schweitzer Kemink Graham syndrome
Specialty:	Medical genetics
Symptoms:	Ear, auditory, and jaw anomalies
Complications:	Hearing loss
Onset:	Early infancy, but whether or not the symptoms will show up is congenital
Duration:	Life-long
Prevention:	none
Management:	-->
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,^[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]

Presentation

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

Ear/Auditory

• Microtia (abnormally small ears)
• Thick earlobes
• Conductive hearing loss
• Congenital auditory ossicle anomalies

Jaw

• Micrognathia

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]

Notes and References

1. Web site: Thickened earlobes-conductive deafness syndrome - About the Disease - Genetic and Rare Diseases Information Center . 2022-05-31 . rarediseases.info.nih.gov . en.
2. Web site: RESERVED . INSERM US14-- ALL RIGHTS . Orphanet: Thickened earlobes conductive deafness syndrome . 2022-05-31 . www.orpha.net . en.
3. Web site: OMIM Entry - % 128980 - EARLOBES, THICKENED, WITH CONDUCTIVE DEAFNESS FROM INCUDOSTAPEDIAL ABNORMALITIES . 2022-05-31 . omim.org . en-us.
4. Web site: Thickened earlobes-conductive deafness syndrome (Concept Id: C1851896) - MedGen - NCBI . 2022-05-31 . www.ncbi.nlm.nih.gov . en.
5. Escher . F. . Hirt . H. . January 1968 . Dominant hereditary conductive deafness through lack of incus-stapes junction . Acta Oto-Laryngologica . 65 . 1 . 25–32 . 10.3109/00016486809120938 . 0001-6489 . 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 . 10.1017/s0022215100072121 . 0022-2151 . 5428055. 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 . 0192-9763 . 6476090.