U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Abnormal middle ear morphology

MedGen UID:
387824
Concept ID:
C1857456
Anatomical Abnormality; Finding
Synonym: Middle ear malformations
 
HPO: HP:0008609

Definition

An abnormality of the morphology or structure of the middle ear. [from HPO]

Conditions with this feature

Smith-Magenis syndrome
MedGen UID:
162881
Concept ID:
C0795864
Disease or Syndrome
Smith-Magenis syndrome (SMS) is characterized by distinctive physical features (particularly coarse facial features that progress with age), developmental delay, cognitive impairment, behavioral abnormalities, sleep disturbance, and childhood-onset abdominal obesity. Infants have feeding difficulties, failure to thrive, hypotonia, hyporeflexia, prolonged napping or need to be awakened for feeds, and generalized lethargy. The majority of individuals function in the mild-to-moderate range of intellectual disability. The behavioral phenotype, including significant sleep disturbance, stereotypies, and maladaptive and self-injurious behaviors, is generally not recognized until age 18 months or older and continues to change until adulthood. Sensory issues are frequently noted; these may include avoidant behavior, as well as repetitive seeking of textures, sounds, and experiences. Toileting difficulties are common. Significant anxiety is common as are problems with executive functioning, including inattention, distractibility, hyperactivity, and impulsivity. Maladaptive behaviors include frequent outbursts / temper tantrums, attention-seeking behaviors, opposition, aggression, and self-injurious behaviors including self-hitting, self-biting, skin picking, inserting foreign objects into body orifices (polyembolokoilamania), and yanking fingernails and/or toenails (onychotillomania). Among the stereotypic behaviors described, the spasmodic upper-body squeeze or "self-hug" seems to be highly associated with SMS. An underlying developmental asynchrony, specifically emotional maturity delayed beyond intellectual functioning, may also contribute to maladaptive behaviors in people with SMS.
Fraser syndrome 1
MedGen UID:
1639061
Concept ID:
C4551480
Disease or Syndrome
Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). Genetic Heterogeneity of Fraser Syndrome Fraser syndrome-2 (FRASRS2) is caused by mutation in the FREM2 gene (608945) on chromosome 13q13, and Fraser syndrome-3 (FRASRS3; 617667) is caused by mutation in the GRIP1 gene (604597) on chromosome 12q14. See Bowen syndrome (211200) for a comparable but probably distinct syndrome of multiple congenital malformations.

Professional guidelines

PubMed

Zhang TY, Bulstrode N, Chang KW, Cho YS, Frenzel H, Jiang D, Kesser BW, Siegert R, Triglia JM
J Int Adv Otol 2019 Aug;15(2):204-208. doi: 10.5152/iao.2019.7383. PMID: 31418720Free PMC Article
Alper C, Olszewska E
Otolaryngol Pol 2017 Feb 28;71(1):1-21. doi: 10.5604/01.3001.0009.5547. PMID: 28485292
Dougherty W, Kesser BW
Otolaryngol Clin North Am 2015 Dec;48(6):955-74. Epub 2015 Sep 8 doi: 10.1016/j.otc.2015.06.007. PMID: 26360369

Recent clinical studies

Etiology

Frenzel H
Adv Otorhinolaryngol 2018;81:32-42. Epub 2018 Apr 6 doi: 10.1159/000485525. PMID: 29794426
Marques LHS, Martins DV, Juares GL, Lorenzetti FTM, Monsanto RDC
Int J Pediatr Otorhinolaryngol 2017 Oct;101:223-229. Epub 2017 Aug 22 doi: 10.1016/j.ijporl.2017.08.020. PMID: 28964299
Luers JC, Hüttenbrink KB
J Anat 2016 Feb;228(2):338-53. Epub 2015 Oct 19 doi: 10.1111/joa.12389. PMID: 26482007Free PMC Article
Kakehata S
Otolaryngol Clin North Am 2013 Apr;46(2):227-32. doi: 10.1016/j.otc.2012.10.006. PMID: 23566908
Tanzer RC
Clin Plast Surg 1978 Jul;5(3):317-36. PMID: 359217

Diagnosis

Walker D, Shinners MJ
Pediatr Ann 2016 May 1;45(5):e167-70. doi: 10.3928/00904481-20160401-01. PMID: 27171804
Kakehata S
Otolaryngol Clin North Am 2013 Apr;46(2):227-32. doi: 10.1016/j.otc.2012.10.006. PMID: 23566908
Kösling S, Omenzetter M, Bartel-Friedrich S
Eur J Radiol 2009 Feb;69(2):269-79. Epub 2007 Dec 3 doi: 10.1016/j.ejrad.2007.10.019. PMID: 18054456
Casselman JW
Neuroimaging Clin N Am 1996 May;6(2):265-89. PMID: 8726907
Shanks JE
Ear Hear 1984 Sep-Oct;5(5):268-80. doi: 10.1097/00003446-198409000-00003. PMID: 6542036

Therapy

Metwally MI, Alayouty NA, Basha MAA
Clin Imaging 2020 Oct;66:42-53. Epub 2020 Apr 20 doi: 10.1016/j.clinimag.2020.04.022. PMID: 32450482
Schilder AG, Chonmaitree T, Cripps AW, Rosenfeld RM, Casselbrant ML, Haggard MP, Venekamp RP
Nat Rev Dis Primers 2016 Sep 8;2(1):16063. doi: 10.1038/nrdp.2016.63. PMID: 27604644Free PMC Article
Dhar DK, Ganguly KC, Alam S, Hossain A, Sarker UK, Das BK, Haque MJ
Mymensingh Med J 2009 Jan;18(1):75-9. PMID: 19182755
Huber MA
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2007 Mar;103(3):314-20. Epub 2007 Jan 12 doi: 10.1016/j.tripleo.2006.10.003. PMID: 17223585
Tanzer RC
Clin Plast Surg 1978 Jul;5(3):317-36. PMID: 359217

Prognosis

Choo DI, Tawfik KO, Martin DM, Raphael Y
Am J Med Genet C Semin Med Genet 2017 Dec;175(4):439-449. Epub 2017 Oct 30 doi: 10.1002/ajmg.c.31587. PMID: 29082607Free PMC Article
Malm D, Nilssen Ø
Orphanet J Rare Dis 2008 Jul 23;3:21. doi: 10.1186/1750-1172-3-21. PMID: 18651971Free PMC Article
Nordzell B
Plast Reconstr Surg 2000 Dec;106(7):1466-72. doi: 10.1097/00006534-200012000-00004. PMID: 11129173
Phelps PD, Lloyd GA
Clin Radiol 1980 Sep;31(5):501-12. doi: 10.1016/s0009-9260(80)80034-1. PMID: 7009023
Tanzer RC
Clin Plast Surg 1978 Jul;5(3):317-36. PMID: 359217

Clinical prediction guides

Kalinousky AJ, Luperchio TR, Schrode KM, Harris JR, Zhang L, DeLeon VB, Fahrner JA, Lauer AM, Bjornsson HT
Genes (Basel) 2023 Dec 28;15(1) doi: 10.3390/genes15010048. PMID: 38254937Free PMC Article
Elias TGA, Santos F
Otol Neurotol 2022 Apr 1;43(4):e461-e466. doi: 10.1097/MAO.0000000000003490. PMID: 35120079Free PMC Article
Frenzel H
Adv Otorhinolaryngol 2018;81:32-42. Epub 2018 Apr 6 doi: 10.1159/000485525. PMID: 29794426
Huber MA
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2007 Mar;103(3):314-20. Epub 2007 Jan 12 doi: 10.1016/j.tripleo.2006.10.003. PMID: 17223585
Lin AE, Gorlin RJ, Lurie IW, Brunner HG, van der Burgt I, Naumchik IV, Rumyantseva NV, Stengel-Rutkowski S, Rosenbaum K, Meinecke P
Am J Med Genet 1995 Mar 13;56(1):42-59. doi: 10.1002/ajmg.1320560112. PMID: 7747785

Recent systematic reviews

Daniel A, Budiono G, Rao A, Low GK, Ellis MP, Lee J
Int J Pediatr Otorhinolaryngol 2023 Mar;166:111418. Epub 2022 Dec 30 doi: 10.1016/j.ijporl.2022.111418. PMID: 36709714
Lovin BD, Appelbaum EN, Makoshi L, Whitehead WE, Sweeney AD
Ann Otol Rhinol Laryngol 2021 Dec;130(12):1360-1368. Epub 2021 Apr 9 doi: 10.1177/00034894211007242. PMID: 33834882
Gilberto N, Custódio S, Colaço T, Santos R, Sousa P, Escada P
Eur Arch Otorhinolaryngol 2020 Apr;277(4):987-998. Epub 2020 Jan 18 doi: 10.1007/s00405-020-05792-4. PMID: 31955213
Marques LHS, Martins DV, Juares GL, Lorenzetti FTM, Monsanto RDC
Int J Pediatr Otorhinolaryngol 2017 Oct;101:223-229. Epub 2017 Aug 22 doi: 10.1016/j.ijporl.2017.08.020. PMID: 28964299
Van Abel KM, Carlson ML, Link MJ, Neff BA, Beatty CW, Lohse CM, Eckel LJ, Lane JI, Driscoll CL
Laryngoscope 2013 Aug;123(8):1957-66. Epub 2013 Jan 18 doi: 10.1002/lary.23928. PMID: 23335152

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...