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tarsal-carpal coalition syndrome (TCC) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

tarsal-carpal coalition syndrome

MONDO:0008521

Also known as:TCCsynostosis of talus and calcaneus with short stature

Overview

Tarsal-carpal coalition syndrome is characterized by fusion of the carpals, tarsals, and phalanges.

GeneticsAutosomal dominant · NOG (chr 17)

OnsetCHILDHOOD

ResearchLimited published research (2 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: Tarsal synostosis, Abnormality of the ankle, and Short stature; and common findings: Short 1st metacarpal, Proximal symphalangism of hands, Radial deviation of finger, and Carpal synostosis. 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	4	Short finger, Proximal symphalangism of hands, Radial deviation 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).

Tarsal-carpal coalition syndrome 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: 3 very common features, 4 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 tarsal-carpal coalition syndrome.

2 publications have been identified in PubMed for tarsal-carpal coalition syndrome. Research spans Case Report / Case Series (100%).

Recent Publications

Eerens M (2025). [PMID: 41241397](https://pubmed.ncbi.nlm.nih.gov/41241397/). *J Rheumatol*. [Case Report / Case Series]
Farhud DD (2024). [PMID: 39430143](https://pubmed.ncbi.nlm.nih.gov/39430143/). *Iran J Public Health*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 6:59 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:186570

Orphanet

European rare disease database

Orphanet:1412

GARD

Genetic and Rare Diseases Info Center

GARD:9225

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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tarsal-carpal coalition syndrome

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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