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Thickened earlobes-conductive deafness syndrome

MedGen UID:
343676
•Concept ID:
C1851896
•
Finding
Synonym: Earlobes, thickened, with conductive deafness from incudostapedial abnormalities
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0007504
OMIM®: 128980
Orphanet: ORPHA2405

Definition

Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant. [from ORDO]

Clinical features

From HPO
Bilateral conductive hearing impairment
MedGen UID:
99093
•Concept ID:
C0452136
•
Disease or Syndrome
A bilateral type of conductive hearing impairment.
See: Feature record | Search on this feature
Abnormal pinna morphology
MedGen UID:
167800
•Concept ID:
C0857379
•
Congenital Abnormality
An abnormality of the pinna, which is also referred to as the auricle or external ear.
See: Feature record | Search on this feature
Abnormality of the middle ear ossicles
MedGen UID:
324579
•Concept ID:
C1836678
•
Finding
An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea).
See: Feature record | Search on this feature
Congenital conductive hearing impairment
MedGen UID:
867179
•Concept ID:
C4021537
•
Congenital Abnormality
A type of conductive deafness with congenital onset.
See: Feature record | Search on this feature
Absent stapes head
MedGen UID:
867506
•Concept ID:
C4021888
•
Anatomical Abnormality
See: Feature record | Search on this feature
Abnormal malleus morphology
MedGen UID:
868936
•Concept ID:
C4023349
•
Anatomical Abnormality
An abnormality of the malleus, an ossicle in the middle ear.
See: Feature record | Search on this feature
Micrognathia
MedGen UID:
44428
•Concept ID:
C0025990
•
Congenital Abnormality
Developmental hypoplasia of the mandible.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVThickened earlobes-conductive deafness syndrome
Follow this link to review classifications for Thickened earlobes-conductive deafness syndrome in Orphanet.

Recent clinical studies

Etiology

The heart in m.3243A>G carriers.
Finsterer J, Zarrouk-Mahjoub S
Herz 2020 Jun;45(4):356-361. Epub 2018 Aug 20 doi: 10.1007/s00059-018-4739-6. PMID: 30128910
Myhre syndrome.
Le Goff C, Michot C, Cormier-Daire V
Clin Genet 2014 Jun;85(6):503-13. Epub 2014 Apr 2 doi: 10.1111/cge.12365. PMID: 24580733
The spectrum of radiological findings in H syndrome.
Hiller N, Zlotogorski A, Simanovsky N, Ingber A, Ramot Y, Molho-Pessach V
Clin Imaging 2013 Mar-Apr;37(2):313-9. Epub 2012 Jul 15 doi: 10.1016/j.clinimag.2012.05.015. PMID: 23465985
From tall to short: the role of TGFβ signaling in growth and its disorders.
Le Goff C, Cormier-Daire V
Am J Med Genet C Semin Med Genet 2012 Aug 15;160C(3):145-53. Epub 2012 Jul 12 doi: 10.1002/ajmg.c.31337. PMID: 22791552
Keratitis-ichthyosis-deafness (KID) syndrome.
Gonzalez ME, Tlougan BE, Price HN, Patel R, Kamino H, Schaffer JV
Dermatol Online J 2009 Aug 15;15(8):11. PMID: 19891919

Diagnosis

Antenatal Findings of Keratitis-Ichthyosis-Deafness Syndrome.
Okmen F, Hortu I, Jafarova U, Imamoglu M, Ekici H, Ergenoglu AM
J Obstet Gynaecol Can 2020 Apr;42(4):504-506. Epub 2019 Aug 14 doi: 10.1016/j.jogc.2019.06.005. PMID: 31421982
Multimodal Ultrawide-Field Imaging Features in Waardenburg Syndrome.
Choudhry N, Rao RC
Ophthalmic Surg Lasers Imaging Retina 2015 Jun;46(6):670-3. doi: 10.3928/23258160-20150610-12. PMID: 26114849Free PMC Article
The spectrum of radiological findings in H syndrome.
Hiller N, Zlotogorski A, Simanovsky N, Ingber A, Ramot Y, Molho-Pessach V
Clin Imaging 2013 Mar-Apr;37(2):313-9. Epub 2012 Jul 15 doi: 10.1016/j.clinimag.2012.05.015. PMID: 23465985
Keratitis-ichthyosis-deafness (KID) syndrome.
Gonzalez ME, Tlougan BE, Price HN, Patel R, Kamino H, Schaffer JV
Dermatol Online J 2009 Aug 15;15(8):11. PMID: 19891919
Escher-Hirt syndrome.
Kotzot D, Schlegel C, Wichmann W, Schinzel A
Clin Dysmorphol 1997 Oct;6(4):315-21. doi: 10.1097/00019605-199710000-00003. PMID: 9354839

Therapy

An adolescent male with persistent urinary symptoms.
Saha S, Sinha R
Pediatr Nephrol 2024 Nov;39(11):3209-3211. Epub 2024 Jun 6 doi: 10.1007/s00467-024-06424-3. PMID: 38842721
Camurati-Engelmann disease: unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand.
Whyte MP, Totty WG, Novack DV, Zhang X, Wenkert D, Mumm S
J Bone Miner Res 2011 May;26(5):920-33. doi: 10.1002/jbmr.283. PMID: 21541994Free PMC Article
Ocular manifestations of keratitis-ichthyosis-deafness (KID) syndrome.
Messmer EM, Kenyon KR, Rittinger O, Janecke AR, Kampik A
Ophthalmology 2005 Feb;112(2):e1-6. doi: 10.1016/j.ophtha.2004.07.034. PMID: 15691545
Sports-related pads.
Dickens R, Adams BB, Mutasim DF
Int J Dermatol 2002 May;41(5):291-3. doi: 10.1046/j.1365-4362.2002.01356_3.x. PMID: 12100708
Keratoderma hereditarium mutilans (Vohwinkel's syndrome) associated with congenital deaf-mutism.
Peris K, Salvati EF, Torlone G, Chimenti S
Br J Dermatol 1995 Apr;132(4):617-20. doi: 10.1111/j.1365-2133.1995.tb08721.x. PMID: 7748756

Prognosis

Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families.
Su Y, Gao X, Huang SS, Mao JN, Huang BQ, Zhao JD, Kang DY, Zhang X, Dai P
BMC Med Genet 2018 Sep 4;19(1):157. doi: 10.1186/s12881-018-0630-9. PMID: 30176854Free PMC Article
Myhre syndrome.
Le Goff C, Michot C, Cormier-Daire V
Clin Genet 2014 Jun;85(6):503-13. Epub 2014 Apr 2 doi: 10.1111/cge.12365. PMID: 24580733
Camurati-Engelmann disease: unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand.
Whyte MP, Totty WG, Novack DV, Zhang X, Wenkert D, Mumm S
J Bone Miner Res 2011 May;26(5):920-33. doi: 10.1002/jbmr.283. PMID: 21541994Free PMC Article
Recent developments in hereditary nephritis (Alport's syndrome).
Bubalo FS, Davidson DD
Indiana Med 1991 Dec;84(12):860-6. PMID: 1774457
Renal prognosis in women with hereditary nephritis.
Grünfeld JP, Noël LH, Hafez S, Droz D
Clin Nephrol 1985 Jun;23(6):267-71. PMID: 4028523

Clinical prediction guides

Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families.
Su Y, Gao X, Huang SS, Mao JN, Huang BQ, Zhao JD, Kang DY, Zhang X, Dai P
BMC Med Genet 2018 Sep 4;19(1):157. doi: 10.1186/s12881-018-0630-9. PMID: 30176854Free PMC Article
HRCT and MRI findings in X-linked non-syndromic deafness patients with a POU3F4 mutation.
Gong WX, Gong RZ, Zhao B
Int J Pediatr Otorhinolaryngol 2014 Oct;78(10):1756-62. Epub 2014 Aug 17 doi: 10.1016/j.ijporl.2014.08.013. PMID: 25175280
The spectrum of radiological findings in H syndrome.
Hiller N, Zlotogorski A, Simanovsky N, Ingber A, Ramot Y, Molho-Pessach V
Clin Imaging 2013 Mar-Apr;37(2):313-9. Epub 2012 Jul 15 doi: 10.1016/j.clinimag.2012.05.015. PMID: 23465985
From tall to short: the role of TGFβ signaling in growth and its disorders.
Le Goff C, Cormier-Daire V
Am J Med Genet C Semin Med Genet 2012 Aug 15;160C(3):145-53. Epub 2012 Jul 12 doi: 10.1002/ajmg.c.31337. PMID: 22791552
Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4).
Jefferson JA, Lemmink HH, Hughes AE, Hill CM, Smeets HJ, Doherty CC, Maxwell AP
Nephrol Dial Transplant 1997 Aug;12(8):1595-9. doi: 10.1093/ndt/12.8.1595. PMID: 9269635

Supplemental Content

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