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stapes ankylosis with broad thumbs and toes - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

stapes ankylosis with broad thumbs and toes

MONDO:0008484

Also known as:Teunissen-Cremers syndromeankylosis of stapes, hyperopia, Broad thumbs, Broad first toes, and syndactylystapes ankylosis syndrome without symphalangism

Overview

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.

GeneticsAutosomal dominant · NOG (chr 17)

OnsetCONGENITAL

ResearchLimited published research (3 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Hypermetropia, Stapes ankylosis, Broad thumb, and Broad hallux and others; and common findings: Toe syndactyly, Long nose, Underdeveloped nasal alae, and Fused cervical vertebrae and others. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	3	Toe syndactyly, Proximal/middle symphalangism of 5th finger, Short distal phalanx of finger

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

NOG encodes noggin (232 aa). Inhibitor of bone morphogenetic proteins (BMP) signaling which is required for growth and patterning of the neural tube and somite. Essential for cartilage morphogenesis and joint formation. Highest expression in Cervix Ectocervix (8.8 TPM) and Cervix Endocervix (7.4 TPM).

Stapes ankylosis with broad thumbs and toes is associated with mutations in the NOG gene on chromosome 17.

The NOG protein participates in p75NTR interacts with the NOGO receptor and Formation of paraxial mesoderm pathways.

NOG is classified as a druggable target (Druggable Genome category) with score 0.0.

Diagnosis

Genetic testing for NOG is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 6 very common features, 7 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for stapes ankylosis with broad thumbs and toes.

3 publications have been identified in PubMed for stapes ankylosis with broad thumbs and toes. Research spans Case Report / Case Series (67%) and Epidemiology / Natural History (33%).

Recent Publications

Zrno M (2025). [PMID: 41148756](https://pubmed.ncbi.nlm.nih.gov/41148756/). *Audiol Res*. [Case Report / Case Series]
Farhud DD (2024). [PMID: 39430143](https://pubmed.ncbi.nlm.nih.gov/39430143/). *Iran J Public Health*. [Epidemiology / Natural History]
Zheng Z (2024). [PMID: 39534424](https://pubmed.ncbi.nlm.nih.gov/39534424/). *Appl Clin Genet*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 1:02 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:184460

Orphanet

European rare disease database

Orphanet:140917

GARD

Genetic and Rare Diseases Info Center

GARD:12631

Questions for Your Care Team

→Should I pursue genetic testing for NOG, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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stapes ankylosis with broad thumbs and toes

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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