blepharocheilodontic syndrome 1
Findings
No curated finding names blepharocheilodontic syndrome 1 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 CDH1 gene.
Definition from the Mondo Disease Ontology (MONDO:0054740), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
16 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.
- DistichiasisHPOHP:0009743
- 8 of 8 reported patients
- Ectropion of lower eyelidsHPOHP:0007651
- 8 of 8 reported patients
- EuryblepharonHPOHP:0012905
- 8 of 8 reported patients
- Flat faceHPOHP:0012368
- 8 of 8 reported patients
- High foreheadHPOHP:0000348
- 8 of 8 reported patients
- HypertelorismHPOHP:0000316
- 8 of 8 reported patients
- LagophthalmosHPOHP:0030001
Show the remaining 4
- Aplasia cutis congenita over the scalp vertexHPOHP:0004471
- 2 of 8 reported patients
- Cutaneous syndactylyHPOHP:0012725
- 2 of 8 reported patients
- Neural tube defectHPOHP:0045005
- 2 of 8 reported patients
- Choanal atresiaHPOHP:0000453
- 1 of 8 reported patients
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.
- CDH1HGNC:1748
- Definitive · Illumina · Autosomal dominant · 2021
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Ambry Genetics · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
- A kind of
Other names
2 names
Resolves to: blepharocheilodontic syndrome 1
- Also called
- blepharo-cheilo-odontic syndrome caused by mutation in CDH1CDH1 blepharo-cheilo-odontic syndrome