Hereditary Connective Tissue Diseases in Young Adult Stroke: A Comprehensive Synthesis

Table 1

Villefranche classification of Ehlers-Danlos syndrome (1998).

Type	Inheritance	Gene(s)	Phenotype
Classic EDS (Types I/II)	AD	COL5A1,; COL5A2	Hyperelastic, soft skin, atrophic scars, easy bruising, joint hyperlaxity
Hypermobility EDS (Type III)	AD	Unknown	Gross joint hyperlaxity, mild atrophic scarring and easy bruising
Vascular EDS (Type IV)	AD	COL3A1	Typical facial gestalt, skin fragility, extreme vascular fragility, rupture of uterus and colon
Kyphoscoliosis EDS (Type VI)	AR	PLOD	Marfanoid habitus, hypotonia, kyphoscoliosis, ocular complications + features of Type I EDS
Arthrochalasis EDS; (Types VIIA and B)	AD	COl1A1,; COL1A2	Severe joint hyperlaxity, congenital bilateral hip dyslocation, easy bruising, scoliosis, hypotonia
Dermatosparaxis EDS; (Type VII C)	AR	Procollagen,; N-peptidase	Severe skin fragility, sagging redundant skin, excessive bruising

AD: autosomal dominant; AR: autosomal recessive.