Beckwith Wiedemann Syndrome is rare and affects approximately 200,000 people in the United States.
The disorder is present from birth and causes large body size, large organs and a variety of other complications.
Although the exact cause of the disorder is not known, the majority of the cases are found to have a defect in chromosome #11.
Infants with Beckwith Wiedemann Syndrome are usually large at birth and have large eyes, soft spots and tongues. A child that suffers with the disorder often has ear abnormalities, undescended testicles, low blood sugar, and seizures and may be lethargic and hard to feed.
Doctors can diagnose this disorder after birth by doing x-rays, blood tests, ultrasounds and chromosome studies.
select * from birthdefectscomments where id="624509351" Comments 1 to 4 of about 4.
347 days ago.
My little boy was diagnosed with this when he was 5 months old. He had pretty much all the signs of it from birth but it wasn't picked up by the doctors despite me having a feeling something was wrong & me keep asking them about his symptoms. I was told everything was OK but still had a nagging feeling that they were wrong so kept researching myself & stumbled across BWS. My baby seemed to tick all the boxes for this condition so I was fairly sure he had it, we saw a geneticist & they ran some fairly in depth blood tests & about 2 months later they confirmed his diagnosis. He spent some time in special care when he was born, as he had various complications & was being monitored by specialists after leaving hospital due to a whole in his heart so he saw so many doctors & even though he showed most of the signs they all failed to pick this up. I am sure that if it wasn't for my own research he would never have been diagnosed so there are probably lots of other children out there that get missed or diagnosed fairly late on. Some of my sons doctors have said it may be more common than we realise, as some children have much milder symptoms than others & it therefore doesn't get picked up.
I hope you're friend is coping OK, I know it was a real shock for me when I first found out & the worry of it is still very hard to deal with sometimes. My little boy is a very happy gorgeous little boy though & I wouldn't change a thing about him. Please feel free to message me if you or your friend have any questions or she wants to talk to someone that's been through it.
349 days ago.
My friends baby (1 yr old) is been tested for this now. Has anyone heard of a diagnosis this late before?
1721 days ago.
my middle daughter who is now 5yrs old was diagnosed with this when she was born it was very hard at first as she also had other problems with supar ventricular tachicardia and omphecele she as had quite a lot of surgery s never thought she would get through half of it but what a fighter she is there is some good news to all of this she is now going to school and does nt look that much differant to any other child her age and with this syndrome they say it gets better as such as they get bigger the only magor worry is she still has to be scanned every 3 months for wilms tumours
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