Ehlers-Danlos syndrome, cardiac valvular type
Ehlers-Danlos syndrome, cardiac valvular 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.
Also known as cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome, cardiac valvular form of Ehlers-Danlos syndrome, cardiac-valvular EDS, cardiac-valvular Ehlers-Danlos syndrome, COL1A2-related Ehlers-Danlos syndrome, cardiac valvular type, cvEDS, EDS, cardiac valvular type, EDSCV, Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form — per MONDO