No advice other than to say maybe take a look on facebook for a support group as there are usually groups for these rare disorders that can be very helpful. I'm sure by the fact you are here and asking that your friend has some good support in place and I wish them well.
It's a craniofacial syndrome and its rare about 1:100,000 births. Quite often these children have breathing issues and may require a trachy, and quite often have hearing issues. The bones in the skull are fused together and this in turn affects the eye sockets making the eyes bulge. Your friend's baby needs to be referred to somewhere like GOSH where they have the expertise, as I am sure that there will be several surgeries to try and move the sutures in the skull. If they've diagnosed it for definite then hopefully they will be looking to one of the NHS craniofacial centres of excellence. It also quite often affects the hands and feet and is not unlike Aperts Syndrome.
Thanks Sally, the poor toot is quite ill. They have been told he is blind too(save for dark shapes in one eye). The hospital here havent come across it before so said he will be referred to Yorkhill in Glasgow. His elbows cant straighten either as well as the other things you mention. I am trying to find someone who has experience of bringing up a child with this condition but as you said its very rare.
My dd and ds4 have a craniofacial syndrome and I've only met one other MN here with a dc with it and she found me as he's only 1yo. I think that FB is the best place for her to connect with once she has come to terms with it all. She may also want to look for Crouzons or Craniosyntosis conditions as well, as there are similarities with that too. I hope that her dc isn't deaf as well as that along with the VI will be difficult to manage to start with. I can't help with the actual skull problems as I've only known a couple of people over the years who have had those surgeries and they were in Oxford, but both mine are deaf so I understand that side of it and multiple surgeries including trachy and gastrostomy.
Thank you, he said he failed the hearing test but know that he can hear as startles to sounds and I know it took my DD five goes to pass a hearing test so I am praying he passes the next one. He is tube fed but is struggling to keep anything down at the moment and is back in hospital as is now dry vomiting.
Google has thrown up that Prince (the singer) had a son who sadly passed away very young with the same syndrome :-(
I found a FB support group for Pfeiffers so have passed that on. Although the genetic test results arent back yet the cloverleaf shape of his skull makes it highly likely to be Type 2. The doctors haven't been very optimistic about his life expectancy. It's really sad.
Thanks again for your reply. I hope you have good support and help xx