Table 2.
Descriptive | Clinical features | Genes | Inheritance |
---|---|---|---|
Classical | Marked joint hypermobility, skin hyperextensibility, bruising, abnormal scarring | COL5A1, COL5A2 | AD |
Hypermobility | Marked joint hypermobility, minor skin findings | Largely unknown, TNXB | AD |
Vascular | Thin translucent skin, marked bruising, small joint hypermobility, high risk for rupture of arteries, bowel and gravid uterus | COL3A1 | AD |
Kyphoscoliosis | Kyphoscoliosis recalcitrant to surgery, joint hypermobility, risk for arterial rupture, ocular fragility | PLOD1 | AR |
Arthrochalasia | Marked joint hypermobility, bilateral congenital hip dislocation | COL1A1, COL1A2 | AD |
Dermatosparaxis | Soft, fragile skin with late onset skin redundancy, blue sclerae, joint hypermobility | ADAMTS2 | AR |
AD: autosomal dominant fashion, AR: autosomal recessive fashion