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Disease Profile
Mondini dysplasia
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
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ICD-10
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Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Familial nonsyndromal Mondini dysplasia (subtype)
Summary
Mondini dysplasia is a type of inner ear malformation that is present at birth (
Symptoms
Cause
In cases where Mondini dysplasia is associated with a specific
Diagnosis
GeneTests lists the names of laboratories that are performing genetic testing for many conditions that may be associated with Mondini dysplasia. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
Treatment
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
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American Hearing Research Foundation
275 N. York Street
Suite 401
Elmhurst, IL 60126
Telephone: (630) 617-5079
Fax: (630) 563-9181
E-mail: https://american-hearing.org/about/contact/
Website: https://www.american-hearing.org -
American Society for Deaf Children (ASDC)
PO Box 23
Woodbine, MD 21797
Toll-free: 1-800-942-2732
E-mail: [email protected]
Website: https://deafchildren.org/ -
National Association of the Deaf
8630 Fenton Street Suite 820
Silver Spring, MD 20910
Telephone: +1-301-587-1788
TTY: +1-301-587-1789
Fax: +1-301-587-1791
E-mail: [email protected]
Website: https://www.nad.org/
Organizations Providing General Support
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Hands & Voices
PO Box 3093
Boulder, CO 80307
Telephone: (303) 492-6283
E-mail: [email protected]
Website: https://www.handsandvoices.org
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Mondini dysplasia. Click on the link to view a sample search on this topic.
References
- Masri A, Bakri FG, Birkenhäger R, Alassaf A, Musharbash AF, Haroun A, Zak I. Mondini malformation associated with diastematomyelia and presenting with recurrent meningitis. J Child Neurol. May 2011; 26(5):622-624. https://www.ncbi.nlm.nih.gov/pubmed/21421905.
- Kamata A, Obinata K, Kon N, Suganuma H, Niizuma T, Kinoshita K. Recurrent meningitis with Mondini dysplasia after the operation and vaccination. Pediatr Int. April 2010; e111-3. https://www.ncbi.nlm.nih.gov/pubmed/20500457.
- Liu FC, Chen PY, Huang FL, Lee CY, Lin CF. Recurrent bacterial meningitis in a child with mondini dysplasia. Clin Pediatr (Phila). November 2009; 48(9):975-977. https://www.ncbi.nlm.nih.gov/pubmed/19074357.
- Huang S, Han D, Yuan Y, et al. Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct. J Transl Med. September 2011; 9:167. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3204245/.
- Tullu MS, Khanna SS, Kamat JR, Kirtane MV. Mondini dysplasia and pyogenic meningitis. Indian J Pediatr. July 2004; 71(7):655-657. https://www.ncbi.nlm.nih.gov/pubmed/15280618.
- Daneshi A, Hassanzadeh S, Abasalipour P, Emamdjomeh H, Farhadi M. Cochlear implantation in Mondini dysplasia. ORL J Otorhinolaryngol Relat Spec. January-February 2003; 65(1):39-44. https://www.ncbi.nlm.nih.gov/pubmed/12624505.
- Griffith AJ Telian SA, Downs C, Gorski JL, Gebarski SS, Lalwani AK, Sheldon S. Familial Mondini dysplasia. Laryngoscope. September 1998; 108(9):1368-73. https://www.ncbi.nlm.nih.gov/pubmed/9738759.
- Arellano B, Ramírez Camacho R, García Berrocal JR, Villamar M, del Castillo I, Moreno F. Sensorineural hearing loss and Mondini dysplasia caused by a deletion at locus DFN3. Arch Otolaryngol Head Neck Surg. September 2000; 126(9):1065-1069. https://www.ncbi.nlm.nih.gov/pubmed/10979118.
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