IllnessEhlers-Danlos syndrome, vascular type

NGS +

The different types of Ehlers-Danlos syndrome form a heterogeneous group of diseases characterised by fragility of the soft connective tissue and manifest themselves in the skin, ligaments, joints, blood vessels and/or internal organs. The clinical spectrum is very diverse and ranges from mild skin and joint hypermobility to severe physical disability and life-threatening vascular complications. An overlap with osteogenesis imperfecta is observed. Diseases in this group include classic Ehlers-Danlos syndrome (EDS), musculo-contractival EDS, hypermobile EDS, vascular EDS, arthrochalasia EDS, dermatosparax EDS, periodontal EDS, X-linked EDS, brittle corneal syndrome, classic type 1 and type 2 EDS, cardiac valve EDS, spondylodysplastic EDS, myopathic EDS and kyphoscoliotic EDS.

Reference: https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=DE&data_id=13266&Disease_Disease_Search_diseaseGroup=ehlers-danlos&Disease_Disease_Search_diseaseType=Pat&Krankheite(n)/Disease Group=Ehlers-Danlos Syndrome&title=Ehlers-Danlos Syndrome&search=Disease_Search_Simple

• Alias: Ehlers-Danlos syndrome type IV
• Alias: Ehlers-Danlos syndrome, vascularType, type III
• Allelic: Polymicrogyria with or without vascular-type EDS
• Ehlers-Danlos classic/vascular type (COL3A1)