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Kyphoscoliosis

Generalized joint laxity and severe muscle hypotonia at birth are seen in this type of EDS. Muscular hypotonia can be very pronounced and leads to delayed gross motor development. Individuals present with scoliosis at birth. The scoliosis 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 may be seen. Spontaneous arterial rupture can easily occur. Other findings may include marfanoid habitus, microcornea, and radiologically considerable osteopenia.

Kyphoscoliosis Type EDS is the result of a deficient lysyl hydroxylase (PLOD). Inheritance: Autosomal recessive.