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Otosclerosis 4(OTSC4)

MedGen UID:
369916
Concept ID:
C1969046
Disease or Syndrome
Synonym: OTSC4
 
Monarch Initiative: MONDO:0012696
OMIM®: 611571

Clinical features

From HPO
Otosclerosis
MedGen UID:
10508
Concept ID:
C0029899
Disease or Syndrome
Clinical otosclerosis, the single most common cause of hearing impairment, is characterized by isolated endochondral bone sclerosis of the labyrinthine capsule. Otosclerotic foci invade the stapediovestibular joint (oval window) and interfere with free motion of the stapes. Mean age of onset is in the third decade and 90% of affected persons are under 50 years of age at the time of diagnosis. Approximately 10% of affected persons develop profound sensorineural hearing loss across all frequencies (summary by Tomek et al., 1998). Genetic Heterogeneity of Otosclerosis The locus associated with otosclerosis-1 (OTSC1) has been mapped to chromosome 15q26.1. Other loci associated with otosclerosis include OTSC2 (605727) on chromosome 7q; OTSC3 (608244) on chromosome 6p; OTSC4 (611571) on chromosome 16q; OTSC5 (608787) on chromosome 3q22-q24; OTSC7 (611572) on chromosome 6q13; OTSC8 (612096) on chromosome 9p13.1-q21.11; and OTSC10 (615589) on chromosome 1q41-q44. OTSC11 (620576) is caused by mutation in the FOXL1 gene (603252) on chromosome 16q24. OTSC12 (620792) is caused by mutation in the SMARCA4 gene (603254) on chromosome 19p13. The symbols OTSC6 and OTSC9 were reserved by the HUGO Gene Nomenclature Committee on January 30, 2003 and February 10, 2009, respectively, for as yet unpublished loci for otosclerosis.
Mixed hearing impairment
MedGen UID:
102336
Concept ID:
C0155552
Disease or Syndrome
A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment.

Professional guidelines

PubMed

Kan T, Ueda H, Kishimoto M, Tsuchiya Y, Ogawa T, Uchida Y
Auris Nasus Larynx 2020 Jun;47(3):343-347. Epub 2020 May 4 doi: 10.1016/j.anl.2020.03.009. PMID: 32370914
Virk JS, Singh A, Lingam RK
Otol Neurotol 2013 Sep;34(7):e55-60. doi: 10.1097/MAO.0b013e318298ac96. PMID: 23921926
Swartz JD
Semin Ultrasound CT MR 2004 Aug;25(4):305-18. doi: 10.1053/j.sult.2004.04.001. PMID: 15497612

Recent clinical studies

Etiology

Ayache D, Sleiman J, Plouin-Gaudon I, Klap P, Elbaz P
J Laryngol Otol 1999 Jun;113(6):512-4. doi: 10.1017/s0022215100144378. PMID: 10605578

Diagnosis

Roberts DM, Bush ML, Jones RO
Otol Neurotol 2014 Feb;35(2):241-5. doi: 10.1097/MAO.0b013e3182a437b3. PMID: 24448283Free PMC Article

Prognosis

Ayache D, Sleiman J, Plouin-Gaudon I, Klap P, Elbaz P
J Laryngol Otol 1999 Jun;113(6):512-4. doi: 10.1017/s0022215100144378. PMID: 10605578

Clinical prediction guides

Ayache D, Sleiman J, Plouin-Gaudon I, Klap P, Elbaz P
J Laryngol Otol 1999 Jun;113(6):512-4. doi: 10.1017/s0022215100144378. PMID: 10605578

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