Siblings affected with SGS

there isn’t much out there about whether SGS is definitely an autsomal recessive syndrome and what signs were picked up during pregnancy. Our geneticist said it could be likely that our child developed this gene mutation on her own and may not be autsomal recessive. What have other people been told? Does anyone know of other families who have had more than one child with SGS? Also what signs did people get if any during their pregnancy that something wasn’t right. We had increased nuchal transluscency, hydronephrosis and curved pinky fingers. Would appreciate any info people willing to share as not alot out there on this topic. Many thanks

Hi Leith-
There are a few theories on SGS, one is that it’s a autosomal recessive gene, meaning both parents carry the gene so each pregnancy will have a 25% chance of a child with SGS.

Another theory is that it’s a gonadal mosaicism for a dominant gene in one of the parents, meaning the eggs OR the sperm have the defect, so the odds are about 5-15% chance per child (only a guess because it’s not known how many eggs or sperm carry the defect.

And the third theory–the one your geneticist suggested, is that it’s a new dominant mutation isolated to just the child.

Since there are a few documented cases of families having more than one child with SGS, the autosomal recessive theory seems to be the most popular, but no one really knows for sure.

There is, however, one doctor at Nijmegen University in the Netherlands doing research TODAY to find the answer and I highly recommend everyone with a child with SGS participate in his research, as this is the only hope we have to find the gene that causes SGS. I sent my son’s DNA, along with mine and my wifes to the doctor. Feel free to contact me for the details and the process to send the DNA. He needs as many DNA samples as he can get to make the research successful.

Signs of SGS during pregnancy:
Bilateral hydronephrosis is the primary detector of SGS during pregnancy. Also abnormalities with the hands, feet or brain. At week 34, we found-out my son had bilateral hydronephrosis and agenesis of the corpus callosum (a brain malformation). Even though we knew this, we still didn’t know it was SGS until after my son was born.

Hi Fanona-
I’m sorry to hear your story. SGS affects both boys and girls equally. Do you have any DNA from either child that could be used for the research being done? This research may tell us what gene, and therefore if it’s hereditary or not, an answer I’m sure we’d all like to know. If so, please let me know…


We were told by our geneticist that it was autosomal recessive inheritance with a one in four chance of occurance. Our first child a girl had sgs with Agenesis corpus callusom, bilateral hydrophronosis, Talipes(foot abnormalities), epilepsy and reflux. She died aged 19 months with pneumoinia. Our second child another girl was diagnosed pre-natally with complex heart problems and kidney problems so we terminated. At PM she had a lot more defects including foot abnormalities and genetal abnormalities and the geneticist diagnosed SGS again.
We are expecting again this time a Boy who so far appears to have no abnormalities which makes me wonder if it is more likely to affect girls or whether its just the luck of the draw.


Dna has been tested and stored from both children by our geneticist in London. If there is someone who wants access to this for research let me know and I can pass on the information to Dr Deshpande our geneticist.

Hi Fanona
Thanks for your reply. We saw our geneticist after I posted this question and he had just got back from a conference in the US in May where a dr reported on all documented cases so far and they are under the opinion it is less likely to be autosomal recessive due to the v small number of cases where more than one child per family affected, but I think there may be many people with a story like yours and these cases are probably not being documented and certainly sway things back towards the ausomal recessive theory. I have been in contact with the Dr’s in the Netherlands this week about the DNA research Greenn is talking about, he may have more info for you, but here is the response I got back and the email address I used if it helps. “We are indeed performing research on SGS. We testing the DNA of SGS patients using a sort of DNA chip which allows a detailed analysis of the genome. Dr. Bregje van Bon is coordinating the clinical part of this research” The email address i used was and the address for Bregje van Bon is . I hope all goes well with your pregnancy and your baby boy arrives healthy and well, it must be a very worrying time for you. Take care.


My daughter has SGS syndrome, can anyone give me some more details. Shes 10wks old and i’m unsure what to expect.

Thanks, Kelly