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Features include always present findings: Joint hypermobility, Aortic arch aneurysm, Thickened mitral valve cusp, and Atrophic scars and others. 18 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Heart and blood vessels | 3 | Aortic arch aneurysm, Thickened mitral valve cusp, Heart muscle disease (cardiomyopathy) |
THBS2 function has not been fully characterized.
Ehlers-Danlos syndrome, classic-like, 3 is associated with mutations in the THBS2 gene on chromosome 6.
Genetic testing for THBS2 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 10 always present features.
No clinical trials have been registered for Ehlers-Danlos syndrome, classic-like, 3.
2 publications have been identified in PubMed for Ehlers-Danlos syndrome, classic-like, 3. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).
van Gurp JE (2025). [PMID: 39807789](https://pubmed.ncbi.nlm.nih.gov/39807789/). *Clinical and translational gastroenterology*. [Case Report / Case Series]
Dreher L (2025). [PMID: 40981152](https://pubmed.ncbi.nlm.nih.gov/40981152/). *Medical sciences (Basel, Switzerland)*. [Review / Meta-Analysis]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:53 AM UTC
Online Mendelian Inheritance in Man
Common questions about Ehlers-Danlos syndrome, classic-like, 3
Blood and immune system
3 |
Prolonged bleeding time, Abnormality of circulating fibrinogen, Abnormal platelet count |
Bones and joints | 2 | Joint hypermobility, Multiple joint dislocation |
Skin | 2 | Piezogenic pedal papules, Hyperextensible skin |
Kidneys and urinary system | 1 | Ascending tubular aorta aneurysm |
Muscles | 1 | Tendon rupture |