blepharocheilodontic syndrome 2
Findings
No curated finding names blepharocheilodontic syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CTNND1 gene.
Definition from the Mondo Disease Ontology (MONDO:0040503), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
8 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.
- Conical toothHPOHP:0000698
- 3 of 3 reported patients
- Ectropion of lower eyelidsHPOHP:0007651
- 3 of 3 reported patients
- Tooth agenesisHPOHP:0009804
- 3 of 3 reported patients
- Cleft lipHPOHP:0410030
- 2 of 3 reported patients
- DistichiasisHPOHP:0009743
- 2 of 3 reported patients
- EuryblepharonHPOHP:0012905
- 2 of 3 reported patients
- LagophthalmosHPOHP:0030001
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.
- CTNND1HGNC:2515
- Definitive · Ambry Genetics · Autosomal dominant · 2024
- Definitive · ClinGen · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · G2P · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: blepharocheilodontic syndrome 2
- Also called
- blepharo-cheilo-odontic syndrome caused by mutation in CTNND1CTNND1 blepharo-cheilo-odontic syndrome