| Ehlers-Danlos syndrome
Generalized joint laxity and severe muscle hypotonia
(weak muscle tone) at birth are seen in this type of Ehlers-Danlos syndrome. 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 may 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).
Kyphoscoliosis Type Ehlers-Danlos syndrome is the result of a deficiency of lysylhydroxylase (PLOD), which is a
collagen-modifying enzyme. This type of Ehlers-Danlos syndrome
is inherited in an autosomal recessive manner. Kyphoscoliosis Type can be diagnosed
through a urine test.
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