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Disease Profile
Progressive deafness with stapes fixation
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.
Unknown
Age of onset
Childhood
ICD-10
H74.3
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)
Thies Reis syndrome; Thies-Reis syndrome; Stapedo-vestibular ankylosis
Categories
Congenital and Genetic Diseases; Connective tissue diseases; Ear, Nose, and Throat Diseases
Summary
Progressive deafness with stapes fixation, also known as Thies Reis
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Cause
Treatment
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
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Differential diagnosis should include minor ossicular malformations presenting with a normal otoscopy, a conductive hearing loss, and abolished stapedial reflexes. In case of otosclerosis, an audiometry with stapedial reflex assessment should be recommended for the parents, siblings, and children (above 20 years of age) of the patient. In all the above etiologies, the progression of the hearing loss is generally slow.
Visit the Orphanet disease page for more information.
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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 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/ -
BEGINNINGS For Parents of Children Who Are Deaf or Hard of Hearing, Inc.
156 Wind Chime Court, Suite A
Raleigh, NC 27615
Telephone: (919) 715-4092 (V/TTY)
Fax: (919) 715-4093 (Fax)
E-mail: [email protected]
Website: https://www.ncbegin.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/
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.
Where to Start
- Genetics Home Reference (GHR) contains information on Progressive deafness with stapes fixation. This website is maintained by the National Library of Medicine.
- The National Institute on Deafness and Other Communication Disorders (NIDCD) offers information on this topic. You can contact NIDCD by calling toll-free 800-241-1044 or by e-mail at [email protected]
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Progressive deafness with stapes fixation. Click on the link to view a sample search on this topic.
References
- Lurie IW. Deafness, Progressive, with Stapes Fixation. Online Mendelian Inheritance in Man (OMIM). 1996;
- Bozorg Grayeli A. Progressive deafness with stapes fixation. Orphanet. 2006; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3235.
- Otosclerosis. National Institute on Deafness and Other Communication Disorders (NIDCD). September 2013; https://www.nidcd.nih.gov/health/otosclerosis.
- Albert S, Roger Gm Rouillon I, Chauvin P, Denoyelle F, Derbez R, Delattre J, Triglia JM, Garabedian EN. Congenital stapes ankylosis: study of 28 cases and surgical results.. Laryngoscope. 2006; 116(7):1153-1157. https://www.ncbi.nlm.nih.gov/pubmed/16826051.
- Hara A, Ase Y, Kusakari J, Kurosaki Y. Arch Otolaryngol Head Neck Surg. 1997; https://www.ncbi.nlm.nih.gov/pubmed/9339992. Accessed 12/11/2009.
- Zhang G, Sun L, Wang X, Wang H, Zhang B, Jin H, Wang H. [Clinical study of a single congenital stapes malformation with possible X-linked dominant inheritance]. Lin Chuang Er Bi Yan Hou Ke Za Zhi. August 2005; 19(16):745-747. https://www.ncbi.nlm.nih.gov/pubmed/16320716.
- Salahuddin I, Salahuddin A. Experience with stapedectomy in a developing country: a review of 200 cases. Ear Nose Throat. August 2002; 81(8):551-552. https://www.ncbi.nlm.nih.gov/pubmed/12199172.
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