Syndrome Questions

[Shelbys Mommy]

My 5-month old daughter has bicoronal cranio and is in the process of being tested for Saethre-Chotzen Syndrome. I have recently researched the symptoms for that syndrome and found that I have a few of them too (strabismus, deviated septum and slight ptosis), but no cranio. We have no family history of cranio. But the symptoms described above are all in the family. Does anyone know if it is possible to have the syndrome without cranio for generations? Do the syndromatic symptoms get worse everytime they get passed down? What happens when they can't find the affected gene? My husband is very adament about not having another baby if there is a chance of them having cranio. Any thoughts would be greatly appreciated. Thanks.

[cheryl2]

Hi Courtney, your family sounds like mine :-)

My daughter Clara and I both have Saethre-Chotzen. She had right coronal, and is the first person in our family to have any type of cranio. I had ptosis, strabismus and also have a hearing loss in my left ear. Clara has all those symptoms as well. Other members of my family have had ptosis. Clara and I are the first ones to have hearing issues. It's not a common symptom of SCS.

Judging from pictures, Saethre-Chotzen in our family goes back at least to my great-grandfather. Clara is the first one with cranio. I do not have cranio, yet the test for SCS came back positive. So it is definitely possible to have the syndrome without having cranio.

I asked our geneticist if the symptoms get worse each time you have a child. She said no. The way I understand it, the way the genes from both parents interact may determine how severe a case of SCS is. She said that there is a 50% chance any child I have will inherit my SCS gene. But, there is no way to predict the chance of that child having cranio or not. My husband does not want to take that chance either. There is a woman on the board with SCS who has chosen in-vitro fertilization so they can test her embryos first.

I'm interested to find out if your daughter has SCS. There are a few others on the board who have it, but it's pretty rare, even among people with cranio.

That is a sweet picture of you and your daughter. Has she had surgery yet? Take care :)

[Shelbys Mommy]

My daughter, Shelby, had CVR/FOA surgery on February 8, 2007. She is recovering very well. We have an appointment on March 1, 2007 with the geneticist and hopefully we will get some news on whether or not she has Saethre-Chotzen. I never realized that there could possibly be a syndrome in our family, but the more I have researched it, the more possible it has become. Shelby will probably have to have another surgery to correct her ptosis. Do you know if ptosis makes your eyes watery and goopy all the time because Shelby has this problem too. I have noticed that she rarely blinks and have talked to her docotrs about this. They keep telling me that her tear ducts are probably clogged and to massage them several times a day, but nothing seems to be helping. Also, her eyes seem to be farther apart than most other children her age. Do you think I should be concerned and push to get another doctor's opinion about her eyes to avoid possible permanant damage? Thanks for your reply and for answering all my questions. :) Your daughter is very beautiful too!!! Take care.


Hi Courtney, your family sounds like mine :-)

My daughter Clara and I both have Saethre-Chotzen. She had right coronal, and is the first person in our family to have any type of cranio. I had ptosis, strabismus and also have a hearing loss in my left ear. Clara has all those symptoms as well. Other members of my family have had ptosis. Clara and I are the first ones to have hearing issues. It's not a common symptom of SCS.

Judging from pictures, Saethre-Chotzen in our family goes back at least to my great-grandfather. Clara is the first one with cranio. I do not have cranio, yet the test for SCS came back positive. So it is definitely possible to have the syndrome without having cranio.

I asked our geneticist if the symptoms get worse each time you have a child. She said no. The way I understand it, the way the genes from both parents interact may determine how severe a case of SCS is. She said that there is a 50% chance any child I have will inherit my SCS gene. But, there is no way to predict the chance of that child having cranio or not. My husband does not want to take that chance either. There is a woman on the board with SCS who has chosen in-vitro fertilization so they can test her embryos first.

I'm interested to find out if your daughter has SCS. There are a few others on the board who have it, but it's pretty rare, even among people with cranio.

That is a sweet picture of you and your daughter. Has she had surgery yet? Take care :)

[cheryl2]

I've never heard of ptosis causing eye-watering and goopiness. I knew someone whose child had clogged tear ducts, but I can't remember now what was done for it. I believe the geneticist mentioned in her report that Clara's eyes were further apart than normal. That may be something to do with SCS. They don't usually do ptosis surgery on babies. They like to wait. Clara had ptosis surgery at 2 1/2, but they often wait even longer. I had one at 4, two at 5, and one at 7, but most people only need one, so don't worry. I had a combination of bad luck and lousy doctors.

If you're concerned, a second opinion could never hurt. If her eyes are irritated in some way, and she's not producing tears properly, maybe there's some kind of drops you can use?

Take care :-)

[craniomommynbaby]

My brother had clogged tear ducts when he was a baby. He would get very goopy eyes. We just had to regularly massage the tear ducts. If it got really goopy, we just gently massaged with a warm wash cloth. I don't remember if he had eye drops.
I remember Simon's plastic surgeon mentioning once that his facial features were definitely syndromic. She commented something about the spacing of his eyes. To me, they look normal. Then again, I am the mommy.

[Satori]

My 5-month old daughter has bicoronal cranio and is in the process of being tested for Saethre-Chotzen Syndrome. I have recently researched the symptoms for that syndrome and found that I have a few of them too (strabismus, deviated septum and slight ptosis), but no cranio. We have no family history of cranio. But the symptoms described above are all in the family. Does anyone know if it is possible to have the syndrome without cranio for generations? Do the syndromatic symptoms get worse everytime they get passed down? What happens when they can't find the affected gene? My husband is very adament about not having another baby if there is a chance of them having cranio. Any thoughts would be greatly appreciated. Thanks.

awww, she looks like a cutie! My dd was dx'd with SCS at 5 months and just had a ptosis repair due to it covering the pupil and she developed amblyopia as a result so now were having to patch. The expression of the syndrome varies. I used a sperm bank to conceive my dd, never in my wildest dreams did it occur to me someone with SCS could qualify for donation. The bank swore up and down the donor does not display SCS traits but of course could not so much as share a picture of him with me. Well there's no symptoms in my family and I handed his detailed profile over to a friend and he tracked him down in less then an hour online and while I can see evidence of hypotonia in his face (he's got the same half droop my dd has on her droopy eye side) but what I found very interesting was the picture of his sister. She has classic symptoms of SCS, droopy eye, dental issues, low set ears, the whole 9 yards! So while my donor was able to pass as being unaffected his sister was very effected.

I know you don't know me or anything but I'm really wanting to meet other families IRL with the same dx, I'm actually going to be in Van Nuys the beginning of next month (visiting my SO and taking my 6 yr old to the Aquarium of the pacific in Long Beach) and wondered if you were interested in meeting up some where for lunch to compare notes on our kids? If not thats fine, just thought I'd ask:)

[mum_to_3]

hi everyone
my son was diagnosed with saethre-chotzen syndrome a little under 12 months ago after yrs n yrs of testing
hes now 61/2yrs old and hes about to have his 3rd set of grommets..
after googling the syndrome it suits tommie to a tea with everything hes got- and apparntly the docs have said tommie has a very mild case of it ..hes got ( prominent forhead)- his left eye goes in more then his right- (he has a beaked nose)- hair growth on his legs and arms in certain spots- (hearing loss)- stunted growth-high pallat...we'll have to wait till hes 16 before the doctors can do a operation to straighten his nose ( as hes only got 1 nostil open)...
other than that hes very smart and doesnt miss a thing lol
im glad ive come across this forum as there arnt many things in australia about this conditon
he was also born with a very very large fontanelle and wasnt till he was 3yrs it totally closed up --at present hes got 2 tiny tiny holes at the back of his skull-- which the doctors say will close up any time soon but he hasnt got the cranio as far as i know

[cheryl2]

Hi, welcome, glad you found us. Glad that your son has a mild case and no cranio. I did not have cranio either, but if you feel my head, you can tell that it is shaped a bid odd. Take care.

[Tawnia]

I just wanted to pop in about the tear ducts thing. My friend's son has clogged tear ducts they tried massaging them, etc but he eventually needed surgery to clear them (he is 13 months)

[Satori]

I just wanted to say Welcome! from a fellow SCS family:)

:colors




hi everyone
my son was diagnosed with saethre-chotzen syndrome a little under 12 months ago after yrs n yrs of testing
hes now 61/2yrs old and hes about to have his 3rd set of grommets..
after googling the syndrome it suits tommie to a tea with everything hes got- and apparntly the docs have said tommie has a very mild case of it ..hes got ( prominent forhead)- his left eye goes in more then his right- (he has a beaked nose)- hair growth on his legs and arms in certain spots- (hearing loss)- stunted growth-high pallat...we'll have to wait till hes 16 before the doctors can do a operation to straighten his nose ( as hes only got 1 nostil open)...
other than that hes very smart and doesnt miss a thing lol
im glad ive come across this forum as there arnt many things in australia about this conditon
he was also born with a very very large fontanelle and wasnt till he was 3yrs it totally closed up --at present hes got 2 tiny tiny holes at the back of his skull-- which the doctors say will close up any time soon but he hasnt got the cranio as far as i know