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Any syndromic craniosynostosis in which the cause of the disease is a mutation in the TCF12 gene.
Features include common findings: Bicoronal synostosis; and sometimes findings: Strabismus, Brachydactyly, Sagittal craniosynostosis, and Low anterior hairline and others. 14 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 2 | Strabismus, Ptosis |
TCF12 function has not been fully characterized.
TCF12-related craniosynostosis is caused by mutations in the TCF12 gene on chromosome 15.
Genetic testing for TCF12 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 common feature.
No clinical trials have been registered for TCF12-related craniosynostosis.
10 publications have been identified in PubMed for TCF12-related craniosynostosis. Research spans Case Report / Case Series (60%), Review / Meta-Analysis (20%), and Basic Science / Preclinical (10%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 6 | 60% |
Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 4:32 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about TCF12-related craniosynostosis
1 |
Sagittal craniosynostosis |
Brain and nerves | 1 | Mild global developmental delay |
Age of onset: at birth.
Research summaries
2 |
20% |
Laboratory research | 1 | 10% |
Disease patterns and progression | 1 | 10% |
Calle MC (2026). [PMID: 42113256](https://pubmed.ncbi.nlm.nih.gov/42113256/). *Childs Nerv Syst*. [Case Report / Case Series]
Li C (2026). [PMID: 42098324](https://pubmed.ncbi.nlm.nih.gov/42098324/). *Childs Nerv Syst*. [Case Report / Case Series]
Edoh E (2026). [PMID: 42059179](https://pubmed.ncbi.nlm.nih.gov/42059179/). *Genet Med*. [Review / Meta-Analysis]
Suzuki E (2025). [PMID: 40642286](https://pubmed.ncbi.nlm.nih.gov/40642286/). *Case Rep Endocrinol*. [Case Report / Case Series]
Bizzari S (2025). [PMID: 41409309](https://pubmed.ncbi.nlm.nih.gov/41409309/). *Mol Syndromol*. [Case Report / Case Series]
Choi TM (2025). [PMID: 40393840](https://pubmed.ncbi.nlm.nih.gov/40393840/). *J Craniomaxillofac Surg*. [Epidemiology / Natural History]
Min L (2025). [PMID: 40558004](https://pubmed.ncbi.nlm.nih.gov/40558004/). *J Craniofac Surg*. [Case Report / Case Series]
Borst A (2025). [PMID: 40287710](https://pubmed.ncbi.nlm.nih.gov/40287710/). *Hum Genomics*. [Basic Science / Preclinical]
Foss-Skiftesvik J (2024). [PMID: 39060747](https://pubmed.ncbi.nlm.nih.gov/39060747/). *Childs Nerv Syst*. [Review / Meta-Analysis]
Celik NB (2024). [PMID: 39036055](https://pubmed.ncbi.nlm.nih.gov/39036055/). *Front Endocrinol (Lausanne)*. [Case Report / Case Series]