National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Progressive deafness with stapes fixation


Other Names:
Thies Reis syndrome; Thies-Reis syndrome; Stapedo-vestibular ankylosis
Categories:
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]
Last updated: 1/30/2017
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. 
Last updated: 1/30/2017

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.

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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
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Last updated: 7/1/2020
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 otosclerosis, Paget'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.  
Last updated: 1/30/2017
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]
Last updated: 1/30/2017
Surgical treatment of isolated deafness with stapes fixation allows good functional results regardless of age or type of surgery.[4] If other symptoms or complications are present, prognosis may be vary.
Last updated: 1/30/2017

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

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
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.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

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

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.

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  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; http://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. http://www.ncbi.nlm.nih.gov/pubmed/16826051.
  5. Hara A, Ase Y, Kusakari J, Kurosaki Y. Arch Otolaryngol Head Neck Surg. 1997; http://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. http://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. http://www.ncbi.nlm.nih.gov/pubmed/12199172.