For people affected by HOS

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

Latest Activity

Dennis Aspö commented on Dennis Aspö's photo


"Davids still not walking but he's getting there too, he's very good at using the walking chair too."
Dennis Aspö commented on Dennis Aspö's photo


"Daniel's almost walking at 13.5 months, given how early they where it's around 11 months developmentally, so basically entirely on track. We're expecting to be called in for x-rays and other prepping for hand surgeries soon."
Dennis Aspö posted photos
Dennis Aspö posted a status
"No it takes very long times between visits to the geneticist. I do not think we'll even speak to him until 2015 some time"
Nadiya Richardson is now friends with Lindsey , Stephanie Meyer and Eric R Gumulak
Becca Evans replied to Becca Evans's discussion Rib pain
"Hmm that's interesting, I might see if I can get a referral to a specialist. Thanks, Becca"
Oct 15
Tammy is now a member of Holt-Oram
Oct 15
Becca Evans replied to Dennis Aspö's discussion Test results came back and where,,, strange
"That seems very odd, have you got any further? Becca"
Oct 15
Dave Warkentin updated their profile
Oct 7
Dennis Aspö posted a discussion

Test results came back and where,,, strange

Genetic tests came back, Daniel has a mutation on a gene (unique mutation so far, nobody else has it) in the area that causes Holt Oram like symptom but David does not (?!). I do however, and the mother doesn't.We're wondering if they could have swapped the results but they seem adamant that this is very unlikely. If it's true it means I have said mutation and no symptoms and David doesn't but has symptoms like his Brother. We'll be discussing it with a geneticist something later.The boys…See More
Oct 3
Allison Dackow is now a member of Holt-Oram
Sep 26
Roseanne c replied to sarah t's discussion SHOULDER PROBLEMS?
"Hi Sarah, Im 41now but when I was a young child my shoulders would dislocate often but I never told anyone I would just pull it back in and go back to playing. If I had said something then it might have been fixed. As it is I was only diagnosed 4…"
Sep 17
Roseanne c replied to Becca Evans's discussion Rib pain
"Hi Becca when I was 17 I was diagnosed with a pigeon chest on the left side. I also had a lot of rib pain they operated removing the cartledge from each rib it worked but they missed massive ASD. Well you can't have everything :-)"
Sep 16
Roseanne c left a comment for Roseanne c
"Hi Ellen Louise, I'm so sorry that it's taken so long to get back to you. I was so glad to hear from someone in Ireland. Do you have HOS? If so how are you doing? I was only diagnosed 4years ago and then all hell broke loose. I'm…"
Sep 16
Erin's mom replied to sarah t's discussion SHOULDER PROBLEMS?
"Hello my daughter is 6 and her shoulders 'pop' in and out also.  We recently did updated xrays because her shoulders looked different to me.  Her right shoulder has no humeral head so basically her humerus doesn't actually…"
Aug 27
Becca Evans left a comment for Tiffany La Chance
"Hi Tiffany, When's your baby due? :-) Becca"
Aug 11



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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Rib pain 9 Replies

Started by Becca Evans. Last reply by Becca Evans Oct 15.

Test results came back and where,,, strange 1 Reply

Started by Dennis Aspö. Last reply by Becca Evans Oct 15.


Started by sarah t. Last reply by Roseanne c Sep 17.


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