stapes ankylosis with broad thumbs and toes
Findings
No curated finding names stapes ankylosis with broad thumbs and toes yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
Definition from the Mondo Disease Ontology (MONDO:0008484), read 2026-09-29. CC BY 4.0.
Features
7 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Long noseHPOHP:0003189
- Frequent (30% to 79% of cases)
- Low hanging columellaHPOHP:0009765
- Frequent (30% to 79% of cases)
- Short distal phalanx of fingerHPOHP:0009882
- Frequent (30% to 79% of cases)
- Toe syndactylyHPOHP:0001770
- Frequent (30% to 79% of cases)
- Underdeveloped nasal alaeHPOHP:0000430
- Frequent (30% to 79% of cases)
- Limited neck range of motionHPOHP:0000466
- 3 of 6 reported patients
- Fused cervical vertebraeHPOHP:0002949
- 2 of 5 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NOGHGNC:7866
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: stapes ankylosis with broad thumbs and toes
- Also called
- Teunissen-Cremers syndrome