MCID: MND005
MIFTS: 17

Mondini Dysplasia

Categories: Ear diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Mondini Dysplasia

MalaCards integrated aliases for Mondini Dysplasia:

Name: Mondini Dysplasia 53 29
Familial Nonsyndromal Mondini Dysplasia 53

Classifications:



Summaries for Mondini Dysplasia

NIH Rare Diseases : 53 Mondini dysplasia is a type of inner ear malformation that is present at birth (congenital). Individuals with Mondini dysplasia have one and a half coils of the cochlea instead of the normal two coils. It may occur in one ear (unilateral) or both ears (bilateral) and can cause varying degrees of sensorineural hearing loss, although most individuals have profound hearing loss. The condition can also predispose affected individuals to recurrent meningitis. It is caused by disruption in the embryonic development of the inner ear during the seventh week of gestation. The condition may be isolated (occurring with no other conditions or malformations) or may occur with other ear malformations or a number of syndromes. Treatment options may include surgical repair of the defect to prevent recurrent meningitis; amplification aids for those with residual hearing; and cochlear implantation.

MalaCards based summary : Mondini Dysplasia, also known as familial nonsyndromal mondini dysplasia, is related to deafness, autosomal recessive 4, with enlarged vestibular aqueduct and meningitis. An important gene associated with Mondini Dysplasia is SLC26A4 (Solute Carrier Family 26 Member 4).

Wikipedia : 76 Mondini dysplasia, also known as Mondini malformation and Mondini defect, is an abnormality of the inner... more...

Related Diseases for Mondini Dysplasia

Graphical network of the top 20 diseases related to Mondini Dysplasia:



Diseases related to Mondini Dysplasia

Symptoms & Phenotypes for Mondini Dysplasia

Drugs & Therapeutics for Mondini Dysplasia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pilot Study of Familial Nonsyndromal Mondini Dysplasia Completed NCT00004336

Search NIH Clinical Center for Mondini Dysplasia

Genetic Tests for Mondini Dysplasia

Genetic tests related to Mondini Dysplasia:

# Genetic test Affiliating Genes
1 Mondini Dysplasia 29

Anatomical Context for Mondini Dysplasia

Publications for Mondini Dysplasia

Articles related to Mondini Dysplasia:

(show top 50) (show all 57)
# Title Authors Year
1
Speech development in young children with Mondini dysplasia who had undergone cochlear implantation. ( 30554681 )
2019
2
Utility of magnetic resonance cisternography with intrathecal gadolinium in detection of cerebrospinal fluid fistula associated with Mondini dysplasia in a patient with recurrent meningitis: Case report and literature review. ( 29770252 )
2018
3
Recurrent Streptococcus pneumoniae meningitis and Mondini dysplasia: Association or causation? ( 29706315 )
2018
4
Erratum: Utility of magnetic resonance cisternography with intrathecal gadolinium in detection of cerebrospinal fluid fistula associated with Mondini dysplasia in a patient with recurrent meningitis: Case report and literature review. ( 30009082 )
2018
5
Peripheral vestibular pathology in Mondini dysplasia. ( 27075694 )
2016
6
Mondini dysplasia with recurrent bacterial meningitis caused by three different pathogens. ( 26542099 )
2015
7
Cerebrospinal fluid otorrhea and pseudomonal meningitis in a child with Mondini dysplasia: case report. ( 26201554 )
2015
8
Recurrent Streptococcus Pneumoniae Meningitis in a Child with Split Hand and Foot Malformation and Undiagnosed Mondini Dysplasia. ( 26640357 )
2015
9
The development of auditory skills in young children with Mondini dysplasia after cochlear implantation. ( 25247792 )
2014
10
Recurrent bacterial meningitis in a child with mondini dysplasia. ( 25431719 )
2014
11
There is something in the ear: mondini dysplasia. ( 24929334 )
2014
12
Use of the translabyrinthine approach to repair congenital spontaneous cerebrospinal fluid leakage in five Chinese patients with Mondini dysplasia. ( 24120183 )
2013
13
Cerebrospinal fluid otorrhea and recurrent bacterial meningitis in a pediatric case with Mondini dysplasia. ( 23521415 )
2013
14
A rare case of split hand/foot malformation with sensorineural hearing loss and Mondini dysplasia. ( 23168687 )
2013
15
Recurrent bacterial meningitis in a child with hearing impairment, mondini dysplasia: a case report. ( 23456530 )
2012
16
Mondini dysplasia presenting as otorrhea without meningitis. ( 23276442 )
2012
17
Mondini dysplasia as a cause for recurrent bacterial meningitis: an early diagnosis. ( 22290862 )
2012
18
Recurrent bacterial meningitis associated with Mondini dysplasia. ( 22036227 )
2011
19
Mondini dysplasia with paradoxical cerebrospinal fluid rhinorrhea. ( 21109092 )
2010
20
Recurrent meningitis with Mondini dysplasia after the operation and vaccination. ( 20500457 )
2010
21
A case of Mondini dysplasia with recurrent Streptococcus pneumoniae meningitis. ( 19259698 )
2009
22
Recurrent bacterial meningitis in a child with mondini dysplasia. ( 19074357 )
2009
23
Composition of the endolymphatic sac luminal fluid in a patient with Mondini dysplasia. ( 18357836 )
2008
24
Mondini dysplasia of the bony and membranous labyrinth. ( 15699735 )
2005
25
Common clinical features of children with enlarged vestibular aqueduct and Mondini dysplasia. ( 15630381 )
2005
26
Prevalent SLC26A4 mutations in patients with enlarged vestibular aqueduct and/or Mondini dysplasia: a unique spectrum of mutations in Taiwan, including a frequent founder mutation. ( 15933521 )
2005
27
Hearing loss associated with enlarged vestibular aqueduct and Mondini dysplasia is caused by splice-site mutation in the PDS gene. ( 15574297 )
2005
28
Mondini dysplasia and recurrent bacterial meningitis in a girl with relapsing Langerhans cell histiocytosis. ( 15170897 )
2004
29
Intrathecal fluorescein to localize cerebrospinal fluid leakage in bilateral mondini dysplasia. ( 14724492 )
2004
30
Mondini dysplasia and pyogenic meningitis. ( 15280618 )
2004
31
Refinement of the deletion in 7q21.3 associated with split hand/foot malformation type 1 and Mondini dysplasia. ( 15121782 )
2004
32
Massive endolymphatic sac and vestibular aqueduct in Mondini dysplasia. ( 15148197 )
2004
33
Cochlear implantation in Mondini dysplasia. ( 12624505 )
2003
34
Case report: cochlear implantation in Mondini dysplasia with congenital footplate defect--implications for meningitis risks during implantation. ( 18792152 )
2003
35
Sensorineural hearing loss and Mondini dysplasia caused by a deletion at locus DFN3. ( 10979118 )
2000
36
Electrical impedance measurements with the CI24M cochlear implant for a child with Mondini dysplasia. ( 10219723 )
1999
37
Direct measurement of cerebrospinal fluid pressure through the cochlea in a congenitally deaf child with Mondini dysplasia undergoing cochlear implantation. ( 10100524 )
1999
38
Mondini dysplasia of the inner ear with CSF leak-A rare cause of recurrent meningitis. ( 10717703 )
1999
39
Familial Mondini dysplasia. ( 9738759 )
1998
40
Histopathological features of a cochlear implant and otogenic meningitis in Mondini dysplasia. ( 9559698 )
1998
41
Cochlear implantation in a bilateral Mondini dysplasia. ( 9309843 )
1997
42
Deafness and Mondini dysplasia in Kabuki (Niikawa-Kuroki) syndrome. Report of a case and review of the literature. ( 9219007 )
1997
43
Mondini dysplasia with recurrent meningitis. ( 8854353 )
1996
44
Audiological findings after multichannel cochlear implantation in patients with Mondini dysplasia. ( 8985561 )
1996
45
The LAURA multichannel cochlear implant in a true Mondini dysplasia. ( 8737790 )
1996
46
Mondini dysplasia and congenital cytomegalovirus infection. ( 8283378 )
1994
47
Bilateral Mondini dysplasia with normal hearing. ( 8321546 )
1993
48
Mondini dysplasia is not associated with meningitis and cerebrospinal fluid fistula. ( 1892629 )
1991
49
Recurrent meningitis and Mondini dysplasia. ( 2183826 )
1990
50
Mondini dysplasia: spontaneous cerebrospinal fluid otorrhea. New perspectives in management. ( 2135198 )
1990

Variations for Mondini Dysplasia

Expression for Mondini Dysplasia

Search GEO for disease gene expression data for Mondini Dysplasia.

Pathways for Mondini Dysplasia

GO Terms for Mondini Dysplasia

Sources for Mondini Dysplasia

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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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