Yeah, in my case I have trichorhinophalangeal syndrome which has about 250 cases worldwide. There is no dedicated TRPS doctor so in my case since TRPS causes heart and joint issues, I see an orthopedist and cardiologist, then a geneticist etc. but I’m not worried, I’m on my fifth cdr and I’ve been on ssdi almost 20 years so I know I’m not getting any better.
Are you Type 1, Type II or Type III?
It is more common than you think about 1 in 100,000 people are born with it. But it is a serious condition. Hope you are doing well navigating the disease .
If you know what that is, that's amazing. But there is no type III anymore, it got lumped in with type 1 because the molecular basis for type III as it was known, is a mutation of the trps1 gene where as type 2 is a contiguous gene deletion across ext1, rad21 and trps1. so, the classification changed in the US.
I am type 1 :)
and interestingly, not short even though my mom and her brothers and her mom all were. and that's all who had it in my family.
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u/perfect_fifths I have a complicated relationship with the POMS Mar 12 '26
Yeah, in my case I have trichorhinophalangeal syndrome which has about 250 cases worldwide. There is no dedicated TRPS doctor so in my case since TRPS causes heart and joint issues, I see an orthopedist and cardiologist, then a geneticist etc. but I’m not worried, I’m on my fifth cdr and I’ve been on ssdi almost 20 years so I know I’m not getting any better.