KYPHOSCOLIOSIS TYPE (Formerly EDS Type VI)
Generalized joint laxity and severe weak muscle tone at birth are seen in this type of EDS. The weak muscular tone can be very pronounced and leads to delayed gross motor development. Individuals with the Kyphoscoliosis Type present with scoliosis at birth is progressive.

The phenotype is most often severe, frequently resulting in the loss of ambulation in the 2nd or 3rd decade. Scleral fragility may lead to rupture of the ocular globe after minor trauma.

Tissue fragility including atrophic scars and easy bruising may be seen in the Kyphoscoliosis Type. Spontaneous arterial rupture can occur. Other findings may include Marfan like features; abnormally small cornea; and radiologically considerable diminished amount of bone tissue.

Kyphosocoliosis Type EDS is the result of a deficiency of lysyl hydroxylase (PLOD), which is a collagen-modifying enzyme. This type of EDS is inherited in an autosomal recessive manner. Kyphoscoliosis Type can be diagnozed through a urine test.

The Vascular Type of EDS is caused by structural defects in the procx1(III) chain of collagen type III encodes by COL3A1. This type of EDS is inherited in an autosomal dominant manner. A skin biopsy can diagnose this type of EDS.

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