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Can you explain why there are "crossovers" of characteristics among the different types of EDS? |
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For each individual with EDS, the clinical story is
unique. There isn't a single answer as to why an individual might have
features of more than one type of EDS. The first step that they could
take to sort this out is to visit a medical geneticist. It is possible
that they might benefit from laboratory testing to confirm the
molecular or biochemical basis of the form of EDS that they have.
Sometimes, but not always, the testing helps to clarify the clinical
confusion. It may be, however that they have features of more than one
type of EDS because they have a connective tissue disorder that hasn't yet
been "described", meaning that the underlying protein abnormality or
gene mutation is unknown. Future research studies will be necessary to
answer the question. Answered by Melanie Pepin MS, CGC
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