Open Access
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 617821 |
| 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 Hypotonia Joint malpositions |
Mutation of B4GALT7 or B2GALT6 or SLC39A13 | AR | <1 per 1,000,000 | – |
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