Genetics

[GinaG73]

Hi

I've recently been diagnosed with a rare genetic disease called Smad 3 also known as aneurysm osteoarthritis syndrome.

It has similar connection with marfuns syndrome.

Has anyone else heard of this genetic disease that I've been diagnosed with?

Thanks for reading

GinaG

[lorate]

Hello yes I have partial marfan syndrome they have a very good website that is the marfan association uk ,it’s a connective tissue disorder

[GinaG73 in reply to lorate]

Hi

Sorry think I may of confused my post ...

ifs SMAD 3 I have not mafan .

I was tested for Marfan , which came back negative.

They then tested for the rare genetic disease aneurysm osteoarthritis syndrome ...

I’m trying to find info on the above but not having much look at the minute .

Gina

[HopeinHim]

I looked it up and there is not much information out there. I would consider contacting the John Ritter research foundation as they are up on the latest information and research about conditions that can cause aorta disease.

[GinaG73 in reply to HopeinHim]

Hi

I know it’s extremely frustrating not being able to source information on this...

Thank you I shall look to see if I can get any luck on there

Gina

[GinaG73 in reply to HopeinHim]

Hi

Just thought I would update on information I have come across regarding SMAD 3

It actually fall into a disease : syndrome called Loey Dietyz syndrome type 3

Just waiting a reply from LDS foundation for more information.

Gina G

[HopeinHim]

Thanks for letting me know! I am glad you found out more information. I hope that they give you some help. I do think there is information on the John Ritter foundation center for that as well. Take care and keep in touch.

[GinaG73 in reply to HopeinHim]

I will do thank you for all your help

Gona