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Ehlers-Danlos syndrome, classic-like, 3

Summary

Ehlers-Danlos syndrome classic-like-3 (EDSCLL3) is an autosomal dominant connective tissue disorder characterized by joint hypermobility and frequent joint dislocations, atrophic scarring, prolonged bleeding time, and age-related aortic dilatation and rupture (Hadar et al., 2024). For a discussion of genetic heterogeneity of classic-like Ehlers-Danlos syndrome, see 606408. For a discussion of the classificiation of Ehlers-Danlos syndrome, see EDSCL1 (130000). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: EDSCLL3, TSP2, THBS2
    Summary: thrombospondin 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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