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Disease Profile

Progressive deafness with stapes fixation

Prevalence
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

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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 syndrome, is a form of conductive or mixed hearing loss caused by fixation of the stapes.[1][2] The stapes is one of the tiny bones in the middle ear. It rests in the entrance to the inner ear, allowing sounds to pass to the inner ear. If it becomes fixated, sound waves cannot pass through to the inner ear, resulting in loss of hearing.[3] This condition may be associated with a number of conditions, including otosclerosis, Paget's disease and osteogenesis imperfecta, or it may be found in isolation.[2][4][5] It may also result from chronic ear infections (otitis media with tympanosclerosis). The progression of hearing loss is generally slow, rarely profound, and usually resolves following treatment. Conductive hearing loss can be restored through surgery or hearing aids. Sensorineural hearing loss can be managed with hearing aids or cochlear implants.[2]

Symptoms

Progressive deafness with stapes fixation is characterized by hearing loss in both ears that can be conductive, sensorineural, or a mix of both and abnormal development of the stapes, one of the three small bones in the middle ear. In this condition, the stapes becomes fixed in place by an abnormally placed piece of connective tissue. Hearing loss associated with this condition typically begins between ages 8 and 24.[1][2] Depending on the underlying cause of progressive deafness and stapes fixations, there may be other associated signs and 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.

Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Bilateral conductive hearing impairment
0008513
Stapes ankylosis
0000381

Cause

The exact cause of progressive deafness with stapes fixation depends on whether it is associated with an underlying condition or infection. This condition may be associated with a number of conditions, including otosclerosisPaget's disease and osteogenesis imperfecta, or it may be found in isolation. It may also result from chronic ear infections (otitis media with tympanosclerosis).[1][2] Isolated cases may be inherited. Autosomal dominant, autosomal recessive, and X-linked cases have been reported.[1][4][6] In some cases, no underlying cause can be identified.

Treatment

Treatment for progressive deafness with stapes fixation be treated typically involves surgery.[1][2] The conductive component of the hearing loss can be restored by surgery or hearing aids. The associated sensorineural component is managed by hearing aids or cochlear implants, depending on its severity.[2] Stapedotomy (a procedure where a laser is used to make a hole in the stapes) or partial stapedectomy (removal of the stapes) with stapes replacement using a prosthesis most commonly achieves satisfactory results with minimal complications.[4][7]

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

    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

      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

        1. Lurie IW. Deafness, Progressive, with Stapes Fixation. Online Mendelian Inheritance in Man (OMIM). 1996;
        2. Bozorg Grayeli A. Progressive deafness with stapes fixation. Orphanet. 2006; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3235.
        3. Otosclerosis. National Institute on Deafness and Other Communication Disorders (NIDCD). September 2013; https://www.nidcd.nih.gov/health/otosclerosis.
        4. 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.
        5. 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.
        6. 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.
        7. 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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