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The Kyphoscoliosis Type of EDS is characterized by generalized joint laxity and severe muscle hypotonia (weak muscle tone) at birth. The muscular hypotonia can be very pronounced and leads to delayed gross motor development. Individuals with the Kyphoscoliosis Type of EDS present with a progressive form of scoliosis at birth. 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. Spontaneous arterial rupture can occur.
Other Findings May Include
- Marfanoid Habitus (Marfan like features)
- Micro Cornea (abnormally small cornea)
- Radiologically Considerable Osteopenia (diminished amount of bone tissue)
The Kyphoscoliosis Type of EDS is the result of a deficiency of lysylhydroxylase (PLOD), which is a collagen-modifying enzyme. This type of EDS is inherited in an autosomal recessive manner. The Kyphoscoliosis Type of EDS can be diagnosed through a urine test.
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