Baby born with several defects

[Wallace]

My parents live in West Africa and a friend of the family has just had a baby with several things wrong
It has a funny shaped head (possibly due to fluid at the back of the skull), cleft lip or palate, one of its hand looks as if it hasn't formed properly (said to look spindly), and a leg which also seems to not be properly developed, with the foot also bent inwards.
The baby was born by cesaerian, and was 5.4kg (about 12 pounds)
My parents are desperately trying to find out information - the doctors over there don't really believe in communication with the patients They have asked me for help in trying to find out what could have caused this, and how it would be treated in the UK.
Any help would be much appreciated. The baby is fine and well otherwise, apart from a low blood sugar level, so they are feeding it glucose.

For such a large baby, it could possibly be symptoms of a syndrome?
Check the heart and organs for abnormalities.
the head shape could be hydrocephalus? this would account for excess weight due to the fluid.
My only reasons for spewing these forth is that I have a baby with a syndrome, minor by comparison, but the symptoms of syndromes range massively, also had brother in law born with hydrocephalus and he had fluid on the skull (shunts inserted) he was also very large weight wise when born,
I am not certain of the level of care available where the baby is, is there any kind of specialist there in either area?
Best of luck I am probably way off base but my gut feeling was to type this anyway... Sorry if its wrong and I scare you...

Wallace, which country are they in? I know a UK paediatrican who is working in the Gambia atm, maybe she could help?

suedonim - They are in Ghana, I wish it were Gambia as any help would be much appreciated

piffleofagus - thanks, I will pass on your information. I think unfortunately the level of care is very poor, even though they are in the capital city. Don't worry you haven't scared me...I think they would like to be able to put a name to it, even if it was a syndrome.

Another thing I was wondering...I know gestational diabetes can cause a heavy birth weight. Could this have caused the defects too?

BTW the baby is a boy called Theo - pronounced "Tea - oh" over there!

Wallace, sorry to hear about your parents' friends' baby. Undiagnosed diabetes can cause congenital defects (i.e. if it is already present at the time of conception but is untreated for whatever reason). Not sure what sort of defects though, and I'm not sure if gestational diabetes can have similar effects. The high birthweight and low blood sugar in the baby would suggest diabetes in the mother. I'll have a look and see if I can find more info.

I agree with piffle it does sound like markers for a syndrome. They really need to see a paed and a clinical geneticist for any kind of diagnosis to be made. I am no help whatsoever in practical terms about how they would sort something like this out. Tamum may know more people, hopefully she will search her name and find this

Wallace, I've had a quick look and have found the following congenital defects listed as possibly linked to poorly controlled diabetes at the time of conception: cleft lip, absence of bone at the base of the spine and holes in the heart. Developing gestational diabetes during the pg does not appear to be linked to congenital defects as such (but if it is uncontrolled it is linked to high birthweight and low blood glucose in the baby after birth). HTH. Not sure about the other things though.

Gingernut where did you find that info? the reason I'm asking is my SIL has a daughter with similar birth defects and she had gestational diabetes I know, (and I think possible diabetes before then) - I wondered if there was something I could read. (they would like another child, but are v concerned about having another one with similar problems).

Sorry pollyanna, only just saw this. It was from a book called `Diabetes at your fingertips', by Peter Sonksen, Charles Fox and Sue Judd, ISBN 1-872362-79-6. According to what I have read, if you have diabetes but it is well-controlled then the chances of these congenital defects are very small. But I really have no direct experience (we have the book because my dh has Type II diabetes). I woud sugget your SIL speaks to her GP.

Wallace: if they can access good hospital care, the defects in themselves don't sound as if they will cause too many problems: Cleft palate etc can easily be rectified, as can what sounds as if it may be talipes (club foot) and maybe some definciencies higher up the lower leg.
If they have access to the 'net, there is a good and busy parents support site called limbdifferences.org that covers hand and leg conditions.

Hello Fio

I'm sorry to hear about all this. The other comments are right, I can't see how gestational diabetes could possibly have caused defects like this unless it started incredibly early in the pregnancy, which doesn't usually happen as far as I know. I also agree that it is likely to be a syndrome, but if you put limb abnormalities and cleft palate into OMIM, a database of genetic disorders, you get 104 possible diseases. Your friends would need to see a specialist to even begin to guess what was going on here; it sounds a bit like Apert syndrome, but that's pure speculation (and I'm not a medic!). As for treatment, which seems to be the most pressing issue, I have no idea I'm afraid. Maybe do what Blu suggested and get in touch with some support groups and see what they suggest?

Thanks Gingernut - I will speak to my SIL.

Thanks everyone for your help.
It turns out the baby DOESN'T have cleft palate or lip There is some concern over his breathing though He will be seeing a paediatrician, and will need surgery on his leg/foot.

I will get in contact with some of the support groups.

I think also the fontanelle at the back of his head (anterior?) is fused, which is affecting the head shape