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Stapes ankylosis

MedGen UID:
350008
Concept ID:
C1861326
Anatomical Abnormality; Finding
Synonym: Stapes fixation
 
HPO: HP:0000381

Definition

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). [from HPO]

Conditions with this feature

Symphalangism-brachydactyly syndrome
MedGen UID:
90977
Concept ID:
C0342282
Disease or Syndrome
Multiple synostoses syndrome is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion. Other features include brachydactyly, hypoplastic or absent middle phalanges, radial head dislocation, and pectus carinatum (summary by Takahashi et al., 2001). Genetic Heterogeneity of Multiple Synostoses Syndrome Other forms of multiple synostoses syndrome include SYNS2 (610017), caused by mutation in the GDF5 gene (601146) on chromosome 20q11; SYNS3 (612961), caused by mutation in the FGF9 gene (600921) on chromosome 13q12; and SYNS4 (617898), caused by mutation in the GDF6 gene (601147) on chromosome 8q22.
Progressive deafness with stapes fixation
MedGen UID:
330446
Concept ID:
C1832354
Disease or Syndrome
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).
X-linked mixed hearing loss with perilymphatic gusher
MedGen UID:
336750
Concept ID:
C1844678
Disease or Syndrome
DFNX2, also known as DFN3, is an X-linked recessive disorder characterized by progressive conductive and sensorineural hearing loss and a pathognomonic temporal bone deformity that includes dilatation of the inner auditory canal and a fistulous connection between the internal auditory canal and the cochlear basal turn, resulting in a perilymphatic fluid 'gusher' during stapes surgery (summary by de Kok et al., 1995 and Song et al., 2010). See also choroideremia, deafness, and mental retardation (303110), a contiguous gene deletion syndrome involving the POU3F4 and CHM (300390) genes on Xq21; isolated choroideremia (303100) is caused by mutation in the CHM gene.
Stapes ankylosis with broad thumbs and toes
MedGen UID:
357104
Concept ID:
C1866656
Disease or Syndrome
This syndrome has characteristics of congenital conductive deafness due to stapes ankylosis, broad thumbs and first toes and hyperopia. So far, it has been described in multiple members of six families. Other skeletal malformations were also reported including short distal phalanges and syndactyly, but symphalangism is usually absent. Transmission is autosomal dominant and the syndrome is caused by mutations in the NOG gene (17q22).
Craniosynostosis and dental anomalies
MedGen UID:
481703
Concept ID:
C3280073
Disease or Syndrome
CRSDA is an autosomal recessive disorder characterized by craniosynostosis, maxillary hypoplasia, and dental anomalies, including malocclusion, delayed and ectopic tooth eruption, and/or supernumerary teeth. Some patients also display minor digit anomalies, such as syndactyly and/or clinodactyly (summary by Nieminen et al., 2011).
Cornelia de Lange syndrome 4
MedGen UID:
766431
Concept ID:
C3553517
Disease or Syndrome
Cornelia de Lange syndrome (CdLS) encompasses a spectrum of findings from mild to severe. Severe (classic) CdLS is characterized by distinctive facial features, growth restriction (prenatal onset; <5th centile throughout life), hypertrichosis, and upper-limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly (missing digits). Craniofacial features include synophrys, highly arched and/or thick eyebrows, long eyelashes, short nasal bridge with anteverted nares, small widely spaced teeth, and microcephaly. Individuals with a milder phenotype have less severe growth, cognitive, and limb involvement, but often have facial features consistent with CdLS. Across the CdLS spectrum IQ ranges from below 30 to 102 (mean: 53). Many individuals demonstrate autistic and self-destructive tendencies. Other frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia.
Proximal symphalangism 1A
MedGen UID:
811492
Concept ID:
C3714899
Disease or Syndrome
Proximal symphalangism-1A (SYM1A) is an autosomal dominant disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and, in some cases, conductive deafness (Strasburger et al., 1965). Genetic Heterogeneity of Proximal Symphalangism Another form of proximal symphalangism (SYM1B; 615298) is caused by mutation in the GDF5 gene (601146).

Professional guidelines

Recent clinical studies

Etiology

Shoman NM
Otol Neurotol 2022 Oct 1;43(9):1005-1010. Epub 2022 Aug 27 doi: 10.1097/MAO.0000000000003662. PMID: 36026603
Ito T, Furukawa T, Ohshima S, Takahashi K, Takata Y, Furukawa M, Hiraumi H, Yamauchi D, Yuasa Y, Goto S, Sasaki A, Koizumi K, Otsuki K, Imaizumi M
Laryngoscope 2021 Jul;131(7):E2323-E2328. Epub 2021 Mar 1 doi: 10.1002/lary.29482. PMID: 33645732
Sobolewska A, Clarós P
Otolaryngol Pol 2018 Nov 6;73(2):23-28. doi: 10.5604/01.3001.0012.7217. PMID: 30919820
Albert S, Roger G, Rouillon I, Chauvin P, Denoyelle F, Derbez R, Delattre J, Triglia JM, Garabedian EN
Laryngoscope 2006 Jul;116(7):1153-7. doi: 10.1097/01.mlg.0000227501.78004.f6. PMID: 16826051
Teunissen B, Cremers CW
Int J Pediatr Otorhinolaryngol 1991 May;21(3):217-26. doi: 10.1016/0165-5876(91)90003-t. PMID: 1869375

Diagnosis

Carlson RJ, Quesnel A, Wells D, Brownstein Z, Gilony D, Gulsuner S, Leppig KA, Avraham KB, King MC, Walsh T, Rubinstein J
Otol Neurotol 2021 Sep 1;42(8):e1143-e1151. doi: 10.1097/MAO.0000000000003176. PMID: 34049328Free PMC Article
Ito T, Furukawa T, Ohshima S, Takahashi K, Takata Y, Furukawa M, Hiraumi H, Yamauchi D, Yuasa Y, Goto S, Sasaki A, Koizumi K, Otsuki K, Imaizumi M
Laryngoscope 2021 Jul;131(7):E2323-E2328. Epub 2021 Mar 1 doi: 10.1002/lary.29482. PMID: 33645732
Brown DJ, Kim TB, Petty EM, Downs CA, Martin DM, Strouse PJ, Moroi SE, Milunsky JM, Lesperance MM
Am J Hum Genet 2002 Sep;71(3):618-24. Epub 2002 Jun 27 doi: 10.1086/342067. PMID: 12089654Free PMC Article
Teunissen B, Cremers CW
Int J Pediatr Otorhinolaryngol 1991 May;21(3):217-26. doi: 10.1016/0165-5876(91)90003-t. PMID: 1869375
Teunissen B, Cremers WR, Huygen PL, Pouwels TP
Laryngoscope 1990 Dec;100(12):1331-6. doi: 10.1288/00005537-199012000-00017. PMID: 2243529

Therapy

Guder E, Böttcher A, Pau HW, Just T
Auris Nasus Larynx 2012 Dec;39(6):562-6. Epub 2012 Feb 10 doi: 10.1016/j.anl.2011.10.020. PMID: 22326118

Prognosis

Ito T, Furukawa T, Ohshima S, Takahashi K, Takata Y, Furukawa M, Hiraumi H, Yamauchi D, Yuasa Y, Goto S, Sasaki A, Koizumi K, Otsuki K, Imaizumi M
Laryngoscope 2021 Jul;131(7):E2323-E2328. Epub 2021 Mar 1 doi: 10.1002/lary.29482. PMID: 33645732
Karosi T, Csomor P, Petkó M, Liktor B, Szabó LZ, Pytel J, Jóri J, Sziklai I
Otol Neurotol 2009 Dec;30(8):1058-66. doi: 10.1097/MAO.0b013e31819fe802. PMID: 19415037
Albert S, Roger G, Rouillon I, Chauvin P, Denoyelle F, Derbez R, Delattre J, Triglia JM, Garabedian EN
Laryngoscope 2006 Jul;116(7):1153-7. doi: 10.1097/01.mlg.0000227501.78004.f6. PMID: 16826051
Brown DJ, Kim TB, Petty EM, Downs CA, Martin DM, Strouse PJ, Moroi SE, Milunsky JM, Lesperance MM
Am J Hum Genet 2002 Sep;71(3):618-24. Epub 2002 Jun 27 doi: 10.1086/342067. PMID: 12089654Free PMC Article
Teunissen B, Cremers CW
Int J Pediatr Otorhinolaryngol 1991 May;21(3):217-26. doi: 10.1016/0165-5876(91)90003-t. PMID: 1869375

Clinical prediction guides

Shoman NM
Otol Neurotol 2022 Oct 1;43(9):1005-1010. Epub 2022 Aug 27 doi: 10.1097/MAO.0000000000003662. PMID: 36026603
Sobolewska A, Clarós P
Otolaryngol Pol 2018 Nov 6;73(2):23-28. doi: 10.5604/01.3001.0012.7217. PMID: 30919820
Potti TA, Petty EM, Lesperance MM
Hum Mutat 2011 Aug;32(8):877-86. Epub 2011 Jun 21 doi: 10.1002/humu.21515. PMID: 21538686
Albert S, Roger G, Rouillon I, Chauvin P, Denoyelle F, Derbez R, Delattre J, Triglia JM, Garabedian EN
Laryngoscope 2006 Jul;116(7):1153-7. doi: 10.1097/01.mlg.0000227501.78004.f6. PMID: 16826051
Brown DJ, Kim TB, Petty EM, Downs CA, Martin DM, Strouse PJ, Moroi SE, Milunsky JM, Lesperance MM
Am J Hum Genet 2002 Sep;71(3):618-24. Epub 2002 Jun 27 doi: 10.1086/342067. PMID: 12089654Free PMC Article

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