Ellis-van Creveld syndrome
Findings
No curated finding names Ellis-van Creveld syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.
Definition from the Mondo Disease Ontology (MONDO:0009162), read 2026-09-29. CC BY 4.0.
Features
52 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 cardiovascular system morphologyHPOHP:0030680
- Very frequent (80% to 99% of cases)
- Abnormal fingernail morphologyHPOHP:0001231
- Very frequent (80% to 99% of cases)
- Abnormal hair morphologyHPOHP:0001595
- Very frequent (80% to 99% of cases)
- Abnormal heart valve morphologyHPOHP:0001654
- Very frequent (80% to 99% of cases)
- Abnormal nail morphologyHPOHP:0001597
- Very frequent (80% to 99% of cases)
- Abnormal oral mucosa morphologyHPOHP:0011830
- Very frequent (80% to 99% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Very frequent (80% to 99% of cases)
- Atrioventricular canal defectHPOHP:0006695
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- Very frequent (80% to 99% of cases)
- Foot polydactylyHPOHP:0001829
- Very frequent (80% to 99% of cases)
- Genu valgumHPOHP:0002857
- Very frequent (80% to 99% of cases)
- Hand polydactylyHPOHP:0001161
- Very frequent (80% to 99% of cases)
Show the remaining 40
- Hypoplastic toenailsHPOHP:0001800
- Very frequent (80% to 99% of cases)
- MicromeliaHPOHP:0002983
- Very frequent (80% to 99% of cases)
- Nail dysplasiaHPOHP:0002164
- Very frequent (80% to 99% of cases)
- Narrow chestHPOHP:0000774
- Very frequent (80% to 99% of cases)
- Neonatal short-limb short statureHPOHP:0008921
- Very frequent (80% to 99% of cases)
- Short distal phalanx of fingerHPOHP:0009882
- Very frequent (80% to 99% of cases)
Genes
6 genes
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.
- EVCHGNC:3497
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2025
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- EVC2HGNC:19747
- Definitive · Ambry Genetics · Autosomal recessive · 2017
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
5 names
Resolves to: Ellis-van Creveld syndrome
- Also called
- Chondroectodermal dysplasiaEllis Van Creveld SyndromeEVCmesodermic dysplasiaMesoectodermal dysplasia