U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Progressive deafness with stapes fixation

MedGen UID:
330446
•Concept ID:
C1832354
•
Disease or Syndrome
Synonyms: Stapedo-vestibular ankylosis; Thies Reis syndrome
SNOMED CT: Progressive deafness with stapes fixation (715529009); Stapedo-vestibular ankylosis (715529009); Thies Reis syndrome (715529009)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0011080
OMIM®: 601449
Orphanet: ORPHA3235

Definition

A hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget''s disease and osteogenesis imperfecta (Lobstein disease). [from SNOMEDCT_US]

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
Stapes ankylosis
MedGen UID:
350008
•Concept ID:
C1861326
•
Anatomical Abnormality
Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles).
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVProgressive deafness with stapes fixation

Recent clinical studies

Etiology

New Imaging Findings of Incomplete Partition Type III Inner Ear Malformation and Literature Review.
Hong R, Du Q, Pan Y
AJNR Am J Neuroradiol 2020 Jun;41(6):1076-1080. Epub 2020 May 28 doi: 10.3174/ajnr.A6576. PMID: 32467182Free PMC Article
A Case Series of X-Linked Deafness-2 with Sensorineural Hearing Loss, Stapes Fixation, and Perilymphatic Gusher: MR Imaging and Clinical Features of Hypothalamic Malformations.
Prat Matifoll JA, Wilson M, Goetti R, Birman C, Bennett B, Peadon E, Prats-Uribe A, Prelog K
AJNR Am J Neuroradiol 2020 Jun;41(6):1087-1093. Epub 2020 May 14 doi: 10.3174/ajnr.A6541. PMID: 32409310Free PMC Article
X-linked hearing loss: two gene mutation examples provide generalizable implications for clinical care.
Stanton SG, Griffin A, Stockley TL, Brown C, Young TL, Benteau T, Abdelfatah N
Am J Audiol 2014 Jun;23(2):190-200. doi: 10.1044/2014_AJA-13-0040. PMID: 24687041
The anterior and superior malleal ligaments in otosclerosis: a histopathologic observation.
Nandapalan V, Pollak A, Langner A, Fisch U
Otol Neurotol 2002 Nov;23(6):854-61. doi: 10.1097/00129492-200211000-00008. PMID: 12438846
Small fenestra stapedotomy for management of progressive conductive deafness.
Farrior JB
South Med J 1994 Jan;87(1):17-22. doi: 10.1097/00007611-199401000-00004. PMID: 8284711

Diagnosis

Study of complex structural variations of X-linked deafness-2 based on single-molecule sequencing.
Jiang Y, Wu L, Huang S, Li P, Gao B, Yuan Y, Zhang S, Yu G, Gao Y, Wu H, Dai P
Biosci Rep 2021 Jun 25;41(6) doi: 10.1042/BSR20203740. PMID: 33860785Free PMC Article
A Case Series of X-Linked Deafness-2 with Sensorineural Hearing Loss, Stapes Fixation, and Perilymphatic Gusher: MR Imaging and Clinical Features of Hypothalamic Malformations.
Prat Matifoll JA, Wilson M, Goetti R, Birman C, Bennett B, Peadon E, Prats-Uribe A, Prelog K
AJNR Am J Neuroradiol 2020 Jun;41(6):1087-1093. Epub 2020 May 14 doi: 10.3174/ajnr.A6541. PMID: 32409310Free PMC Article
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
HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report.
Yang A, Kim J, Ki CS, Hong SH, Cho SY, Jin DK
BMC Med Genet 2017 Oct 26;18(1):121. doi: 10.1186/s12881-017-0484-6. PMID: 29073906Free PMC Article
X-linked hearing loss: two gene mutation examples provide generalizable implications for clinical care.
Stanton SG, Griffin A, Stockley TL, Brown C, Young TL, Benteau T, Abdelfatah N
Am J Audiol 2014 Jun;23(2):190-200. doi: 10.1044/2014_AJA-13-0040. PMID: 24687041

Therapy

Facial nerve stimulation following cochlear implantation for X-linked stapes gusher syndrome leading to identification of a novel POU3F4 mutation.
Wester JL, Merna C, Peng KA, Lewis R, Sepahdari AR, Ishiyama G, Hosokawa K, Kumakawa K, Ishiyama A
Int J Pediatr Otorhinolaryngol 2016 Dec;91:121-123. Epub 2016 Oct 6 doi: 10.1016/j.ijporl.2016.10.003. PMID: 27863625

Prognosis

Study of complex structural variations of X-linked deafness-2 based on single-molecule sequencing.
Jiang Y, Wu L, Huang S, Li P, Gao B, Yuan Y, Zhang S, Yu G, Gao Y, Wu H, Dai P
Biosci Rep 2021 Jun 25;41(6) doi: 10.1042/BSR20203740. PMID: 33860785Free PMC Article
Genetic identification and molecular modeling characterization of a novel POU3F4 variant in two Italian deaf brothers.
Giannantonio S, Agolini E, Scorpecci A, Anzivino R, Bellacchio E, Cocciadiferro D, Novelli A, Digilio MC, Marsella P
Int J Pediatr Otorhinolaryngol 2020 Feb;129:109790. Epub 2019 Nov 22 doi: 10.1016/j.ijporl.2019.109790. PMID: 31786483
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
HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report.
Yang A, Kim J, Ki CS, Hong SH, Cho SY, Jin DK
BMC Med Genet 2017 Oct 26;18(1):121. doi: 10.1186/s12881-017-0484-6. PMID: 29073906Free PMC Article

Clinical prediction guides

Study of complex structural variations of X-linked deafness-2 based on single-molecule sequencing.
Jiang Y, Wu L, Huang S, Li P, Gao B, Yuan Y, Zhang S, Yu G, Gao Y, Wu H, Dai P
Biosci Rep 2021 Jun 25;41(6) doi: 10.1042/BSR20203740. PMID: 33860785Free PMC Article
Genetic identification and molecular modeling characterization of a novel POU3F4 variant in two Italian deaf brothers.
Giannantonio S, Agolini E, Scorpecci A, Anzivino R, Bellacchio E, Cocciadiferro D, Novelli A, Digilio MC, Marsella P
Int J Pediatr Otorhinolaryngol 2020 Feb;129:109790. Epub 2019 Nov 22 doi: 10.1016/j.ijporl.2019.109790. PMID: 31786483
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
HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report.
Yang A, Kim J, Ki CS, Hong SH, Cho SY, Jin DK
BMC Med Genet 2017 Oct 26;18(1):121. doi: 10.1186/s12881-017-0484-6. PMID: 29073906Free PMC Article
The anterior and superior malleal ligaments in otosclerosis: a histopathologic observation.
Nandapalan V, Pollak A, Langner A, Fisch U
Otol Neurotol 2002 Nov;23(6):854-61. doi: 10.1097/00129492-200211000-00008. PMID: 12438846

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...