How rare is pseudo?

I’m just wandering because I am the only on in my family with it.

Hi, Its a pretty rare disorder. I am the only person in my families history on both sides with this though both families have thyroid problems. There is a small number of people with this from just a genetic mutation meaning that neaither parent had the disease just the right genetic makeup to cause the syndrome to form. However you have a 50% chance of passing it onto your own kids and so on. I have 3 kids and 2 of the 3 girls have it


Does anyone know the incidence rate of PhP?
Type 1a?
Type 1b?


dwolfskill wrote:

I have type 1b Pseudo and my brother and sister both have the same. At the time we were diagnosed, I think we were the only three cases in our city…

We saw an endo at the Cleveland Clinic over the summer who specializes in PHP. He said "I suspect that PHP1b is about 1 out of 15,000 to 20,000."
That probably includes all those who have not been diagnosed.

yes, it’s seems that it is that rare. It’s just funny that we’re all in the same family, and that we’re all type 1b. My brother’s 6’1", normal face and fingers. I’m 5’10" and the same. My sister’s probably 5’7" and may have a little bit of the characteristics of 1A(short fingers) but other than that, normal in appearance.

1b MEANS that you show no outward signs, right? The specialist saw brachydactyly in my daughter’s 4th metacarpal, and now isn’t sure if she’s 1a or 1b (she was diagnosed as 1b before, by a non-specialist who didn’t notice her finger).

Do you have a good endo who follows you? Where is that endo located? We flew across the country to find this specialist.

MY brother and sister have a regular one but I’ve been moving a lot the past few years, so I don’t have a regular one. I’m trying to get in touch with the last endo I saw, since my meds(ostoforte) were just discontinued, and I want a good(or better) alternative. Oh, and yes type 1b meaning no outward signs.