Ehlers-Danlos syndrome, classic type
Findings
No curated finding names Ehlers-Danlos syndrome, classic type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome that affects the connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility.
Definition from the Mondo Disease Ontology (MONDO:0007522), read 2026-09-29. CC BY 4.0.
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.
- Atrophic scarsHPOHP:0001075
- Very frequent (80% to 99% of cases)
- Cigarette-paper scarsHPOHP:0001073
- Very frequent (80% to 99% of cases)
- Fragile skinHPOHP:0001030
- Very frequent (80% to 99% of cases)
- Generalized joint hypermobilityHPOHP:0002761
- Very frequent (80% to 99% of cases)
- Hyperextensible skinHPOHP:0000974
- Very frequent (80% to 99% of cases)
- Soft, doughy skinHPOHP:0001027
- Very frequent (80% to 99% of cases)
- Striae distensaeHPOHP:0001065
- Very frequent (80% to 99% of cases)
- Chronic constipationHPOHP:0012450
- Frequent (30% to 79% of cases)
- FatigueHPOHP:0012378
- Frequent (30% to 79% of cases)
- Gastroesophageal refluxHPOHP:0002020
- Frequent (30% to 79% of cases)
- HerniaHPOHP:0100790
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
Show the remaining 56
- Joint dislocationHPOHP:0001373
- Frequent (30% to 79% of cases)
- Muscle spasmHPOHP:0003394
- Frequent (30% to 79% of cases)
- Muscle weaknessHPOHP:0001324
- Frequent (30% to 79% of cases)
- NauseaHPOHP:0002018
- Frequent (30% to 79% of cases)
- OsteopeniaHPOHP:0000938
- Frequent (30% to 79% of cases)
- Poor wound healingHPOHP:0001058
- Frequent (30% to 79% of cases)
Genes
3 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.
- COL1A1HGNC:2197
- Definitive · G2P · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
- COL5A1HGNC:2209
- Definitive · Ambry Genetics · Autosomal dominant · 2017
- Definitive · ClinGen · Autosomal dominant · 2021
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
- COL5A2HGNC:2210
- Definitive · ClinGen · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: Ehlers-Danlos syndrome, classic type
- Also called
- EDS, classic typeEhlers-Danlos syndrome classic type