/Ehlers-Danlos syndrome, cardiac valvular type

Ehlers-Danlos syndrome, cardiac valvular type

Rare Disease

MONDO:0009159

Also Known As

COL1A2-related Ehlers-Danlos syndrome, cardiac valvular typeEDS, cardiac valvular typeEDSCVEhlers-Danlos syndrome, autosomal recessive, cardiac valvular formcardiac valvular form of Ehlers-Danlos syndromecardiac valvular form of autosomal recessive Ehlers-Danlos syndromecardiac-valvular EDScardiac-valvular Ehlers-Danlos syndromecvEDSEhlers-Danlos syndrome, arthrochalasis type

Definition

A form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency.