Stapes ankylosis with broad thumbs and toes

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ORPHA:140917OMIM:184460Q87.8
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8Treatment centers

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UniteRare data is compiled from authoritative primary sources (FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, NORD), then processed through automated and AI-assisted extraction pipelines.
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What is Stapes ankylosis with broad thumbs and toes?

Stapes ankylosis with broad thumbs and toes does not yet have FDA-approved treatments tracked on UniteRare.

Also known as:

Inheritance
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Age of Onset
Childhood
Begins in childhood, roughly ages 1 to 12
Orphanet ↗OMIM ↗NORD ↗

Treatments

Source: openFDA + DailyMed · NDA / BLA labels with structured indications · refreshed weekly

No FDA-approved treatments are currently listed for Stapes ankylosis with broad thumbs and toes.

View clinical trials →

Source: ClinicalTrials.gov · synced daily · phases, status, and PI names normalized at ingest

No actively recruiting trials found for Stapes ankylosis with broad thumbs and toes at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Stapes ankylosis with broad thumbs and toes community →

Source: NPI Registry + PubMed · trial PI roles cross-referenced with ClinicalTrials.gov · ranked by match score (publications + PI activity + community signal)

No specialists are currently listed for Stapes ankylosis with broad thumbs and toes.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers

Source: NORD Rare Disease Centers + NIH Undiagnosed Diseases Network (UDN) · centers verified active within last 12 months

🏨 Children's

Children's Hospital Colorado Rare Disease Program

Children's Hospital Colorado

📍 Aurora, CO

👤 Boston Children's Hospital Rare Disease Program

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Boston Children's Hospital Rare Disease Program

Boston Children's Hospital

📍 Boston, MA

👤 Boston Children's Hospital Rare Disease Program

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

🏨 Children's

Ann & Robert H. Lurie Children's Hospital Genetics

Lurie Children's Hospital

📍 Chicago, IL

👤 Boston Children's Hospital Rare Disease Program

🏥 NORD

Cincinnati Children's Hospital Medical Center

Cincinnati Children's

📍 Cincinnati, OH

👤 Boston Children's Hospital Rare Disease Program

🏨 Children's

Nationwide Children's Hospital Rare Disease Center

Nationwide Children's Hospital

📍 Columbus, OH

👤 Boston Children's Hospital Rare Disease Program

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

Travel Grants

No travel grants are currently matched to Stapes ankylosis with broad thumbs and toes.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Stapes ankylosis with broad thumbs and toes

Source: PubMed + NIH RePORTER + openFDA + clinical-journal RSS · last 30 days · disease-tagged at ingest by AI extraction with human QC

No recent news articles for Stapes ankylosis with broad thumbs and toes.

Follow this condition to be notified when news becomes available.

Caregiver Resources

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Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Common questions about Stapes ankylosis with broad thumbs and toes

What is Stapes ankylosis with broad thumbs and toes?

Stapes ankylosis with broad thumbs and toes, also known as Teunissen-Cremers syndrome, is an extremely rare genetic disorder characterized by the combination of conductive hearing loss due to fixation (ankylosis) of the stapes bone in the middle ear, along with distinctive skeletal abnormalities of the hands and feet. The stapes is one of the three tiny bones in the middle ear responsible for transmitting sound vibrations; when it becomes fixed in place, it results in progressive conductive hearing loss that typically becomes apparent during childhood or adolescence. The broad thumbs and great

How is Stapes ankylosis with broad thumbs and toes inherited?

Stapes ankylosis with broad thumbs and toes follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Stapes ankylosis with broad thumbs and toes typically begin?

Typical onset of Stapes ankylosis with broad thumbs and toes is childhood. Age of onset can vary across affected individuals.

Frequently asked questions about Stapes ankylosis with broad thumbs and toes

Auto-generated from canonical disease facts (Orphanet, OMIM, ClinicalTrials.gov, openFDA, NPPES). Not a substitute for clinical guidance.

  1. What is Stapes ankylosis with broad thumbs and toes?

    Stapes ankylosis with broad thumbs and toes is a rare disease catalogued in international rare-disease ontologies (Orphanet ORPHA:140917, OMIM 184460). It is typically inherited as autosomal dominant. Age of onset is generally childhood. For verified primary sources, see the UniteRare Stapes ankylosis with broad thumbs and toes page.

  2. How is Stapes ankylosis with broad thumbs and toes inherited?

    Stapes ankylosis with broad thumbs and toes follows autosomal dominant inheritance. Genetic counseling is recommended for affected families to understand recurrence risk in offspring and the likelihood of unaffected siblings being carriers. Variants in the underlying gene(s) may be identified via clinical genetic testing.

  3. Are there FDA-approved treatments for Stapes ankylosis with broad thumbs and toes?

    Approved treatments for Stapes ankylosis with broad thumbs and toes are tracked from openFDA and DailyMed primary sources. Many rare diseases have no specific FDA-approved therapy; for those, supportive care and management of complications form the basis of clinical care. Orphan-drug-designation status is noted where applicable.

  4. Are there clinical trials for Stapes ankylosis with broad thumbs and toes?

    Active clinical trials for Stapes ankylosis with broad thumbs and toes are tracked daily from ClinicalTrials.gov. Trial availability changes frequently; check the UniteRare trial listings for the current count and recruitment status. Sponsors of rare-disease research often welcome inquiries even when a trial is not actively recruiting at a given moment.

  5. How do I find a specialist for Stapes ankylosis with broad thumbs and toes?

    Verified Stapes ankylosis with broad thumbs and toes specialists are identified through ClinicalTrials.gov principal-investigator records, peer-reviewed publication authorship (via PubMed), and the NPPES NPI registry. NORD-designated Centers of Excellence and NIH-affiliated rare-disease clinics are also tracked. UniteRare's specialist directory is updated continuously as new evidence becomes available.

See full Stapes ankylosis with broad thumbs and toes page for complete clinical details, sources, and verified-specialist listings.

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