The Villefranche classification of Ehlers Danlos Syndrome subtypes
Subtype: Hypermobility
Defect in Type III collagen, tenascin Xb
Clinical signs: joint hypermobility, skin abnormalities, osteoarthritis, severe pain
Subtype: Classical
Defect in Type I and V collagen
Clinical signs: Similar to the hypermobilty subtype,but with more severe skin abormalities and less severe joint changes
Subtype: Vascular
Defect in Type III collagen
Clinical signs: fragile blood vessels and organs, small stature, thin and translucent skin, easy bruising
Subtype: Kyphoscoliosis
Defect in Lysyl hydroxylase
Clinical signs: Scoliosis, severe muscle weakness, fragile eyes, hyperextensible and bruisable skin
Subtype: Arthrochalasis
Defect in: Type I collagen
Clinical signs: Very loose joints and dislocation of both hips
Subtype: Dermatosparaxis
Defect in ADAM metallopeptidase with thrombospondin type 1 motif
Clinical signs: Very fragile and sagging skin