ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Findings
No curated finding names ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any EEC syndrome in which the cause of the disease is a mutation in the TP63 gene.
Definition from the Mondo Disease Ontology (MONDO:0011428), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
13 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.
- Hypoplastic nipplesHPOHP:0002557
- 6 of 6 reported patients
- Lacrimal duct stenosisHPOHP:0007678
- 6 of 6 reported patients
- Facial hirsutismHPOHP:0009937
- 2 of 5 reported patients
- Anal stenosisHPOHP:0002025
- 2 of 6 reported patients
- Anteriorly placed anusHPOHP:0001545
- 2 of 6 reported patients
- Hypoplastic sacrumHPOHP:0004590
- 1 of 3 reported patients
- Cleft palateHPOHP:0000175
Show the remaining 1
- Nail dystrophyHPOHP:0008404
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
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Definitive · ClinGen · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
Other names
6 names
Resolves to: ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
- Also called
- ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome type 3ectrodactyly, ectodermal dysplasia, and cleft Lip/palate syndrome type 3EEC syndrome 3EEC syndrome caused by mutation in TP63EEC3TP63 EEC syndrome