ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Findings
No curated finding names ankyloblepharon-ectodermal defects-cleft lip/palate syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate.
Definition from the Mondo Disease Ontology (MONDO:0007124), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
68 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.
- AlacrimaHPOHP:0000522
- 3 of 3 reported patients
- AnhidrosisHPOHP:0000970
- 3 of 3 reported patients
- Bilateral choanal atresiaHPOHP:0004502
- 1 of 1 reported patient
- Ectodermal dysplasiaHPOHP:0000968
- 1 of 1 reported patient
- Nail dystrophyHPOHP:0008404
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Pili tortiHPOHP:0003777
- 3 of 3 reported patients
- Sparse body hairHPO
Show the remaining 56
- Coarse hairHPOHP:0002208
- Very frequent (80% to 99% of cases)
- Conductive hearing impairmentHPOHP:0000405
- Very frequent (80% to 99% of cases)
- ErythrodermaHPOHP:0001019
- Very frequent (80% to 99% of cases)
- Fine hairHPOHP:0002213
- Very frequent (80% to 99% of cases)
- Generalized hypopigmentationHPOHP:0007513
- Very frequent (80% to 99% of cases)
- Generalized hypopigmentation of hairHPOHP:0011358
- Very frequent (80% to 99% 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
- Definitive · G2P · Autosomal dominant · 2023
Where it sits
Other names
2 names
Resolves to: ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
- Also called
- AEC SyndromeHay-Wells syndrome