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Table I

The Villefranche classification of EDS (Beighton et al., 1997 [4]). Most common types of EDS − COL: collagene; AD: autosomal dominant; AR: autosomal recessive; OMIM: Online Mendelian Inherance in Man.

Type of EDS Major clinical signs Genetic mutation Heredity Frequency OMIM
Classical forms (ex type I and II) Hyperextensibility of the skin
Atrophic scars
Joint hypermobility
Mutation of COL5A1 or COL5A2 AD 1–9 per 100,000 130000/130010
Hypermobile (ex type III) Variable hyperextensibility of the skin
Generalized hypermobility of the joints
Chronic arthritis
Unknown pathogenic mechanism AD 1–5 per 10,000 130020
Vascular (ex type IV) Thin and translucent skin
Fragility or rupturing of the arteries, intestines or uterus
Characteristic aspect of the face
Mutation of COL3AI AD 1–9 per 100,000 130050
Kyphoscoliotic (ex type VIIA and VIIB) Loose joints
Severe muscle hypotonia at birth
Scoliosis at birth
Fragility of the sclera
Rupturing of the eyeball
Lysyl hydroxylase deficiency AR Unknown 225400
Arthrochalasia Severe joint hypermobility with frequent subluxation
CDH − Congenital dislocation of the hip
Depletion of the exon 6 genes COL1A1 or COL1A2 AD <1 per 1,000,000 130060
Cardiovascular Severe cardiovascular dysfunction
Hyperlaxity of the skin
Joint hypermobility
Mutation of COL1A2 AR <1 per 1,000,000 225320
Classic-like forms (type 1 and 2) Hyperlaxity of the skin
Joint hypermobility
Cutaneous hemorrhagic manifestations
TNXB mutation AR <1 per 1,000,000 606408/618000
Fragile corneal syndrome (ex type VIB) Corneal fragility
Early keratoconus or keratoglobe
Bluish Sclera
Mutation of ZNF469 or PRDM5 AR <1 per 1,000,000 229200/614170
Musculoskeletal Congenital malpositions
Craniofacial anomalies
Skin abnormalities (hyperlaxity, fragility, spontaneous bruising)
Mutation of CHST14 or DSE AR <1 per 1,000,000 601776/615539
Myopathic Congenital hypotonia
Proximal articular malpositions
Distal articular hyperlaxity
Mutation of COL12A1 AD / AR <1 per 1,000,000
Periodontal (ex type VIII) Aggressive Periodontitis
Lack of attached gums
Pre-tibial functions
Family history, first degree
Mutation of C1R AD Unknown 130080/617174
Spondylodysplastic Delays in growth
Joint malpositions
Mutation of B4GALT7 or B2GALT6 or SLC39A13 AR <1 per 1,000,000

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