Holt-Oram

For people affected by HOS

A site for people who have or have an interest in HOS.

Latest Activity

Lindsey updated their profile
Jan 23
Mika Renda left a comment for Dr Ruth Newbury-Ecob
"Hi Ruth, do you have an email address I could contact you at please?"
Dec 19, 2014
Mika Renda left a comment for Becca Evans
"Hi Becca. Hope you're well. Baby due April. Are there any HOS women on here without heart problems that have had children with HOS but also without heart problems? Also are most people diagnosed by blood test looking into genetics or by…"
Dec 19, 2014
Becca Evans commented on Raimonda's photo
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svytejimas

"Gorgeous photos x"
Dec 15, 2014
Raimonda posted a status
"I look forward to a heart transplant. i hope i get young and strong heart :)"
Dec 7, 2014
Raimonda posted photos
Dec 7, 2014
Becca Evans left a comment for Mika Renda
"Hi, Good to have you on the website, when's your baby due? Becca x"
Nov 28, 2014
Mika Renda is now a member of Holt-Oram
Nov 28, 2014
Geraldine Lane is now a member of Holt-Oram
Nov 21, 2014
Becca Evans replied to Becca Evans's discussion Membership to the site
"I just heard back from Ning. It looks like we can continue with our existing rate of $239.90 so we have enough for another year! Thank you all so much! The extra money will stay in the account for next year xx"
Nov 21, 2014
Becca Evans replied to Becca Evans's discussion Membership to the site
"We now have $295.40 in our account. Ning have changed their pricing plans and I can only seem to access them in £! The new plan is £18 a month which I think is approximately $338.56 for the year. I have emailed them a couple of times to…"
Nov 20, 2014
Becca Evans replied to Becca Evans's discussion Membership to the site
"Another incredibly generous $100 donation! I am officially overwhelmed! Thank you so much everyone. Your donations make this website possible :-)"
Nov 20, 2014
Becca Evans replied to Becca Evans's discussion Membership to the site
"Another 3 donations have come in, totalling $35! Thank you so much for your generosity! My dream is to make this group a registered charity but in order to do that in England you have to have a bank account with £5000 in! I'd love to be…"
Nov 20, 2014
Lindsey and Eric R Gumulak are now friends
Nov 20, 2014
Tim updated their profile
Nov 20, 2014
Tim replied to Becca Evans's discussion Membership to the site
"I am so glad you are getting donations! I will try to donate something this weekend or early next week. I also plan on being more active here than I have been. "
Nov 20, 2014

Members

 

What is Holt-Oram syndrome?

Also known as heart-hand syndrome this condition has a lot of different permutations. People with HOS often have upper limb growth abnormalities which can range from being very minor to having parts of arms / fingers / thumbs missing. Often the collar bone is also quite small. In about 75% of cases the heart is also affected, this can be in a variety of ways, ranging from normal function to VSD / ASD, conduction disorders, holes in the heart etc.
Holt-Oram is listed as a rare disease and is estimated to affect 1 in 100000 individuals. HOS is caused by a mutation of the TBX5 gene, this mutation can occur in people with no history of the mutation in their family. HOS is an autosomal dominant disorder which means that only one copy of the mutated gene needs to be passed on in order for a child to inherit the condition, this makes it a 50% chance that the condition will be passed on to children.

This information has not been put together by a health professional, this is simply my understanding of the condition I have. If you feel that there are mistakes in what I have written please let me know and if you want more detailed information please see one of the links.

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Forum

Membership to the site 25 Replies

Started by Becca Evans. Last reply by Becca Evans Nov 21, 2014.

using genetic testing to have a non-HOS effected baby--our story 6 Replies

Started by Katie Gano. Last reply by Felicia Love Nov 17, 2014.

I'm considering having a child 2 Replies

Started by Felicia Love. Last reply by Felicia Love Nov 17, 2014.

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