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blepharocheilodontic syndrome 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

blepharocheilodontic syndrome 2

MONDO:0040503

Also known as:CTNND1 blepharo-cheilo-odontic syndromeblepharo-cheilo-odontic syndrome caused by mutation in CTNND1BCDS2

Overview

Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CTNND1 gene.

GeneticsAutosomal dominant · CTNND1 (chr 11)

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 always present findings: Tooth agenesis, Ectropion of lower eyelids, and Conical tooth; and common findings: Euryblepharon, Lagophthalmos, Cleft lip, and Distichiasis. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	3	Cleft lip, Flat face, Facial asymmetry

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.

CTNND1 encodes catenin delta 1 (968 aa). Key regulator of cell-cell adhesion that associates with and regulates the cell adhesion properties of both C-, E- and N-cadherins, being critical for their surface stability. Highest expression in Esophagus Mucosa (224.6 TPM) and Vagina (163.3 TPM).

Blepharocheilodontic syndrome 2 is caused by mutations in the CTNND1 gene on chromosome 11.

The CTNND1 protein participates in CDH1 associates with CTNND1, CDH11 associates with catenins, and CDH19 associates with catenins pathways.

CTNND1 is classified as a druggable target (Cell Surface category) with score 2.4.

Diagnosis

Genetic testing for CTNND1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 4 common features.

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 blepharocheilodontic syndrome 2.

3 publications have been identified in PubMed for blepharocheilodontic syndrome 2. Research spans Basic Science / Preclinical (67%) and Epidemiology / Natural History (33%).

Recent Publications

Sun D (2026). [PMID: 41412793](https://pubmed.ncbi.nlm.nih.gov/41412793/). *Journal of medical genetics*. [Epidemiology / Natural History]
Herrera-Pariente C (2024). [PMID: 38796558](https://pubmed.ncbi.nlm.nih.gov/38796558/). *Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association*. [Basic Science / Preclinical]
da Silva CC (2024). [PMID: 39005284](https://pubmed.ncbi.nlm.nih.gov/39005284/). *bioRxiv : the preprint server for biology*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 11:28 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617681

GARD

Genetic and Rare Diseases Info Center

GARD:16244

Questions for Your Care Team

→Should I pursue genetic testing for CTNND1, 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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blepharocheilodontic syndrome 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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