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Question: Holt Oram Syndrome? My baby has a congenital birth defect called Holt Oram Syndrome. Anybody else familiar with this? It's very rare. The gene originated in his paternal grandmother. She had it, both her son and daughter have it. Her daughter's son has it, but her daughter does not. And her son (my fiancee) had one son who died from related complications, a daughter who did not recieve the gene, and now our son who is due August 10th has it also. From what we can tell, he has a hole in his heart and a shortened bone in his left forearm which causes the hand to bend inward and be virtually immobile. Both of these complications can be fixed with surgeries, but other things could arise that cannot be detected from ultrasound. Just wondering if anyone else has experience with this defect and it's other possible complications?
Answer: I have had a student with this syndrome. As far as the physical disability aspect the bones in the wrist are usually the most affected. Your son will most likely need Occupational Therapy to learn how to manipulate objects, eat, write, and other life skills. You will also want to have your son checked at the cardiologist on a regular.
When your son is born and officially diagnosed with the syndrome you SHOULD be approched by a social worker to start an intervention. Take advantage of this and get yourselves on a Family Intervention Plan. This will allow you access to free therapies such as OT and other resources you might not have known of otherwise.
Question: i have a 5 year old daughter, she was born with holt oram syndrome, does anyone know of anyone that has this.? i'm just curious to how many case's of this syndrome there is.
she has a shortened radius, fused to theulna and no thumb with a clubbed wrist on her left her shoulder was affected aswell, on her right 5 fingers no thumb, she had a 13mm hole in her heart it was enlarged aswell, and lung problems to. She's just had surgery on her left hand to turn a finger into a thumb
Answer: How common is Holt-Oram syndrome?
Holt-Oram syndrome is estimated to affect 1 in 100,000 individuals.
Question: Is there any way to test that our newborn's blood vessels have formed and are functioning normally? We have a newborn son whom they suspect might have Holt-Oram Syndrome. Besides doing an Ecco on his heart, is there any way to test and make sure that his actual blood vessels- his veins, arteries, etc. - have formed and are functioning normally?
Answer: My sympathies for you and your family...
As to your question, there is a very good/detailed article that also lists radiography (various), ECG (I am a cardiology technologist) as well as genetic testing....
http://www.emedicine.com/med/topic2940.h…
All the best...
