ectodermal dysplasia-syndactyly syndrome 1
Findings
No curated finding names ectodermal dysplasia-syndactyly syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any ectodermal dysplasia-syndactyly syndrome in which the cause of the disease is a mutation in the NECTIN4 gene.
Definition from the Mondo Disease Ontology (MONDO:0024565), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
5 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.
- 2-3 toe cutaneous syndactylyHPOHP:0005709
- 6 of 6 reported patients
- AlopeciaHPOHP:0001596
- 6 of 6 reported patients
- Pili tortiHPOHP:0003777
- 5 of 5 reported patients
- 2-4 finger cutaneous syndactylyHPOHP:0010709
- 3 of 6 reported patients
- 4-5 toe syndactylyHPOHP:0004692
- 2 of 6 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.
- NECTIN4HGNC:19688
- Definitive · G2P · Autosomal recessive · 2010
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
2 names
Resolves to: ectodermal dysplasia-syndactyly syndrome 1
- Also called
- ectodermal dysplasia-syndactyly syndrome caused by mutation in NECTIN4NECTIN4 ectodermal dysplasia-syndactyly syndrome