Does the "marfanoid look" only occur in Marfans, or does it also occur in EDS and/or other connective tissue disorders? I know they are not as characterized by it but can it also be a feature of those disorders, or just specifically Marfans?



Answer:

There are several disorders which can cause a marfanoid appearance, including EDS Type 6 (Kyphoscoliosis Type), Klinefelter’s Syndrome (XXY Chromosomes) and Loey-Dietz Syndrome. So the appearance is certainly not exclusive to one disorder.



Strictly speaking of the common EDS types - The body type seems uncommon. Going into an EDS support group you tend to see a lot of women (And far fewer men.) who look fairly average across various shapes and sizes. There isn’t a singular phenotype that strongly suggests having EDS unlike the Marfanoid Habitus with Marfan Syndrome.



In fact the idea that all connective tissue disorders produce a Marfanoid Body has been quite harmful to people with EDS because they tend to not have a striking appearance, and as a result it takes longer before doctors begin to suspect the presence of a Connective Tissue Disorder.



I had a doctor diagnose me with EDS, but I felt incredibly out of place in the support groups because most of my problems were different from theirs. I have a lot of body-image issues specifically relating to being marfanoid, and some skeletal deformations that I’ve not seen in EDS people. Hopefully in the future we will be able to provide better taxonomy and diagnostic procedures so that everyone can find the answers and help they need.

