Knowra Ehlers–Danlos syndrome Ehlers–Danlos syndrome Ehlers–Danlos syndromes are inherited connective-tissue disorders marked by varying combinations of joint hypermobility, skin extensibility, and tissue fragility.
Collagen : A family of structural proteins that gives connective tissues tensile strength and organization. Collagen structure is altered in several Ehlers–Danlos subtypes, weakening skin, vessels, or other tissues.
COL5A1 : A gene encoding the alpha-1 chain of type V collagen. Variants in this gene can cause classical Ehlers–Danlos syndrome by disrupting collagen fibril formation.
Classical Ehlers–Danlos syndrome : An Ehlers–Danlos subtype characterized by skin hyperextensibility, atrophic scars, and generalized joint hypermobility. It is the clearest example of the syndrome’s characteristic skin and joint findings.
2017 International Classification of the Ehlers–Danlos Syndromes : A classification defining 13 Ehlers–Danlos types using clinical criteria and molecular findings where available. It standardizes subtype names and separates clinically diagnosed hypermobile EDS from gene-defined forms.
Marfan syndrome : An inherited connective-tissue disorder that commonly affects the skeleton, eyes, and aorta. Both disorders can cause joint laxity, but Marfan syndrome has a distinct pattern and genetic basis.
Connective tissue : Tissue that supports, connects, or separates other tissues and organs. The syndromes arise from defects in the body’s widespread supporting tissues.
COL3A1 : A gene encoding the alpha-1 chain of type III collagen. Pathogenic variants can cause vascular Ehlers–Danlos syndrome and weaken arteries and hollow organs.
Vascular Ehlers–Danlos syndrome : A rare Ehlers–Danlos subtype associated with fragility of arteries, bowel, and uterus. Its risk of spontaneous organ or arterial rupture distinguishes it from most other types.
Medical genetics : The study of genetic variation, inheritance, and genetic contributions to health and disease. Genetic evaluation can confirm many subtypes and inform family counseling.
Loeys–Dietz syndrome : An inherited disorder of transforming growth factor beta signaling associated with arterial aneurysms and distinctive skeletal features. Its vascular danger can resemble vascular EDS, but the underlying disorder and clinical pattern differ.
Show all 25