kyphoscoliosis EDS

Generalized joint laxity and severe muscle hypotonia (weak muscle tone) at birth are seen in this type of EDS. The muscular hypotonia can be very pronounced and leads to delayed gross motor development. Individuals with the Kyphoscoliosis Type present with Scoliosis at birth that is progressive. The phenotype is most often severe, frequently resulting in the loss of ambulation in the second or third decade. Scleral fragility may lead to rupture of the ocular globe after minor trauma.

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