EEC syndrome
MONDO:0010004Mondo
Findings
No curated finding names EEC syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).
Definition from the Mondo Disease Ontology (MONDO:0010004), read 2026-09-29. CC BY 4.0.
Features
61 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.
- Abnormal dental enamel morphologyHPOHP:0000682
- Very frequent (80% to 99% of cases)
- Absent lacrimal punctumHPOHP:0001092
- Very frequent (80% to 99% of cases)
- Carious teethHPOHP:0000670
- Very frequent (80% to 99% of cases)
- Coarse hairHPOHP:0002208
- Very frequent (80% to 99% of cases)
- Dry skinHPOHP:0000958
- Very frequent (80% to 99% of cases)
- EctrodactylyHPOHP:0100257
- Very frequent (80% to 99% of cases)
- HyperkeratosisHPOHP:0000962
- Very frequent (80% to 99% of cases)
- Lacrimation abnormalityHPOHP:0000632
- Very frequent (80% to 99% of cases)
- MicrodontiaHPOHP:0000691
- Very frequent (80% to 99% of cases)
- Nail dystrophyHPOHP:0008404
- Very frequent (80% to 99% of cases)
- Nail pitsHPOHP:0001803
- Very frequent (80% to 99% of cases)
- Sparse eyebrowHPOHP:0045075
- Very frequent (80% to 99% of cases)
Show the remaining 49
- Split footHPOHP:0001839
- Very frequent (80% to 99% of cases)
- Split handHPOHP:0001171
- Very frequent (80% to 99% of cases)
- TaurodontiaHPOHP:0000679
- Very frequent (80% to 99% of cases)
- Thick eyebrowHPOHP:0000574
- Very frequent (80% to 99% of cases)
- Tooth agenesisHPOHP:0009804
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the skinHPOHP:0008065
- Frequent (30% to 79% of cases)
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.
- TP63HGNC:15979
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: EEC syndrome
- Also called
- Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palateectrodactyly-ectodermal dysplasia-cleft lip/palate syndromeectrodactyly-ectodermal dysplasia-cleft syndrome