Multiple sutures and syndromes

[Nonie]

I have read many times on these forums that if there are multiple sutures fused it is more likely that it is syndrome related. Noah already had genetic tests for Aperts and Crouzon which came back normal... no syndrome. What are other likely syndromes that can be related to multiple fused sutures. We know now that Noah has both coronal sutures as well as the metopic fused and his anterior fontanel has been completely closed since birth. We are waiting for a CT scan to verify if this is it or if more are fused.

I have seen in other threads reference to broad thumbs and broad big toes... he has this. It's something we noticed at birth but thought nothing of it. He had really big hands and feet also but his daddy does too. The only other abnormalities he has are high muscle tone and an unusual thick lumpy patch of skin on his back(shagreen patch?). The shagreen patch is a sign of Tuberous sclerosis so we'll be looking for that on the CT scan as well. Does any of this match up to any syndrome anyone knows of? Of course I would hope he doesn't have any but with 3 sutures confirmed fused already I guess I want to know what would cause this (I know for many there is no answer).

[craniomommynbaby]

With coronals involved, they might check into Saethre-Chotzen Syndrome, which involves a TWIST mutation. They could also look into Pfeiffer. For Crouzon, they probably looked at whether or not there was an FGFR3 mutation.

[Lisa]

Bradley and I have muenke syndrome, but I am pretty sure it only involves the coronal sutures. A lot of the syndromes can be ruled out just by looking at his sweet face. He is such a cutie!! Are they planning to test again for any of the others?

[Nonie]

I agree, Noah doesn't have the appearance of anything out of the ordinary. I'm even surprised at the bicoronal in a sense... I see the ridging but he doesn't look like all the other bicoronal kids and doesn't appear to have any obvious syndrome. I'll be so glad to have the CT scan - even though I trust the NS it will cement the diagnosis for me.

His pediatrician said he should see a geneticist mostly because of what looks like a shagreen patch. Tuberous sclerosis is a genetic disorder also and with the fusing she just thought it was highly unlikely for one child to have two 'flukes' that are both so uncommon. I've been researching to see if there might be a syndrome that links the two... cranio and tuberous sclerosis. I'm assuming if he sees a geneticist they would do more testing. The only reason they haven't made the referral yet is because the CT scan for cranio will also reveal if he has TS. We'll decide what to do when we have those results. I'm really hoping and praying that the patch is just some strange birthmark, TS is just too scary for me to think about. Cranio is fixable, TS is not.

[Andrea Costa]

He was diagnosed at birth with Jackson-Weiss syndrome. both his toes on his feet are broad and point away from the other fingers. His hands are normal, but hand toes also a bit large. He has bicoronal craniosynostosis and will be operated when completes 3 months (he is 2 weeks old now). Apparently this syndrome is much less common than other similar ones, such as Crouzon, Apert and Pfeiffer. But he doesn´t have the ridge on the back that you mentioned. :dunno

[Leighasmom]

Leigha is as far as I am concerned yet an unfound genetic mutation. The genetist asigned her as Muenke's because she had bicoronal cranio, shortened bones in her pinky fingers, and strong family history of bicoronal cranio. However, she did not have the genetic marker of Muenke or any other known syndromes when her blood was tested. I believe as research continues they will find other syndromes and be able to pinpoint all the genes effected by cranio but until then we are on the fence and will tell both Leigha and her brother they have a 50% chance of having children with cranio just because of the strong family inheritance from dad's side.
Keep us updated on Noah it will be interresting to see what they decide.