Living with Stapes ankylosis with broad thumbs and toes
A very rare genetic bone condition with hearing loss, broad thumbs and big toes, and fused small bones.
Understanding Stapes ankylosis with broad thumbs and toes
A tiny ear bone, the stapes, is stuck in place, causing hearing loss. People also have broad thumbs and big toes and farsightedness. Neck bones may be fused, limiting neck movement, and some people have fused toes. Signs may begin in the newborn or infant years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hearing loss from a stuck ear bone (stapes)
- Broad thumbs and big toes
- Farsightedness (hyperopia)
- Fused neck bones and limited neck movement
- Fused toes
- Short fingertip bones
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in NOG are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the NOG gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: ankylosis of stapes, hyperopia, broad thumbs, broad first toes, and syndactyly; stapes ankylosis syndrome without symphalangism; stapes ankylosis with broad thumb and toe syndrome; teunissen cremers syndrome; teunissen-cremers syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Stapes ankylosis with broad thumbs and toes.
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