Am I the only one?

[Satori]

There are so few pic's out there of kids (none of adults) with Saethre Chotzen Syndrome and I always wonder what they look like. What's considered mild/moderate/severe you know? I wonder what might my daughter look like when she's older due to the syndrome? People have the little images in the profile but you can't really see any details and call me nosey but I want to know the details! So for the nosey people like me who want the details and to see actual faces I'm putting my dd's face out there:) This was done last week and she's 22 months and having her 2nd ptosis repair tomorrow morning and oh crap I can't remember if we have to be at the hospital at 5 or 6am right now...:no:eek:

http://i15.photobucket.com/albums/a355/boredtech/lillycrop.jpg

[jennifer kichar]

Shes beautiful.She must be mild,right?My son is suspected to have a syndrome and on the clinical notes from his PS they list crouzons and scs.What can I look for with SCS?What features of the syndrome does your DD have?Sorry for all the questions there is so little info out there.

[cheryl2]

Hi, later today or tonight I will post a picture or two of Clara and me.

As for features, Clara and I both had bilateral eyelid ptosis (droopy eyelids), strabismus, and are deaf in our left ear (that's not a usual feature of SCS but there you go). They mention webbing of the fingers and toes, but Clara and I don't have that, though our fingers are a little bit oddly shaped. They're very short and thin and our pinky's are bent.

Clara had cranio, but I did not. The doctors thought I probably had a syndrome but did not mention SCS, probably because I did not have cranio.

[frankiesmom]

sorry can't help in that area but wanted to mention your daughter is beautiful.

[mamato3galyons]

Hello,

My son, Connor, does not have Saethre-Chotzen Syndrome (although I read a lot of cases go undiagnosed), but he does have/had double strabismus and post-surgery ptosis in his left eye. Here's a picture of him (he's on the left) showing what I guess would be called a mild case.

HTH,
Melissa


http://img.photobucket.com/albums/v40/melreads/943061313605_0_ALB.jpg

[cheryl2]

http://i52.photobucket.com/albums/g12/cheryl2_2006/_MG_3853.jpg

http://i52.photobucket.com/albums/g12/cheryl2_2006/_MG_3777a.jpg

It's hard to find pictures of me, I'm usually taking the pictues :-) Here's a couple pictures of Clara and me together. Clara's ptosis was repaired, but you can still see a little droop on her right, I think. Here's a picture of Clara before her ptosis was repaired. Hope this helps.
http://i52.photobucket.com/albums/g12/cheryl2_2006/1111708757037955719UogkIj.jpg

[Jenny]

aww Cheryl, I LOVE the fishie pic!! It's so sweet how she's looking through the glass, and mommy's right there!

[Satori]

Shes beautiful.She must be mild,right?My son is suspected to have a syndrome and on the clinical notes from his PS they list crouzons and scs.What can I look for with SCS?What features of the syndrome does your DD have?Sorry for all the questions there is so little info out there.

I am to tired to go though this, we spent 9 hours doing the surgery thing today. I'm going to just C&P the running list I kept the first few months when we were still going to figure out what all was going on.

Birth info: Weight 7’4 & 20.75inches long apgars 8/9 c-section done due to Tachycardia (heart rate went over 200 and stayed there when early labor started naturally. Lilly had been showing signs of distress repeatedly over the previous week)


5.5 mo 13lb14oz & 25.5inches
<o:p> </o:p>
Soft spots on top and back of head are extremely large

There's usually a V shape where the skull bones come together that ends at about
the forehead but in Lilly's case you can clearly feel it open clear down to
her sinus cavity like you would in a kid with hydrocephalus (closed up at 2 months)

Growth plates on the sides of her head feel as though they have already
fused on both sides – Geneticists did x-rays, awaiting results (later CT showed no fusion even though she has a mutation on MSX2 which says she has to have craino and you can see and feel lamboid ridging)

Ptosis - drooping eye, never opens past half way and there is no crease
which indicates it never opens beyond that. (Neuro and Ophthalmology say “Localized Muscle Aplasia” )
<o:p> </o:p>
Hair line goes down to eye brows, side burns go almost down to chin, bit of a mustache

Her ears have what look like adhesions on the backs of them from the middle
down to the bottom of the ear lobes. . (Pedi says it looks like the gills from the fetal stage never disappeared)

She has a deep sacral dimple which usually is not a problem but the edges
are not even and there's a tuft of hair growing from dimple to mid back which may indicate a problem with the spinal cord (MRI normal)
<o:p> </o:p>
Anus is malpositioned and is right next to labial lips with about 1cm between them.

She has a bit of a bubble palet, think of thumbprint cookies then imagine
that imprint in the roof of the mouth. Causes latch issues in breastfeeding.
Not really an issue but may a symptom overall.

Tongue tied at both the tongue and upper lip. (turned out to be *mouth tied*, she has no space between her gums and cheeks either)

She has sucking issues and tires very easily, lactation consultant believes
its due to neuro issues, she also can not stay latched on to the breast
without help and can't suck from a bottle either, just lets it drip in since
she has a lot of trouble sucking. Suck becomes very disorganized when she's
tired, its not all that great to begin with but its pretty much impossible
to eat when she's really tired. (turned out to be hypotonia, OT eval agreed with feeding issues, baby gnaws instead of sucks, finally started improving at 4 months, does well when given 3 point chin support) (Turned out to be caused by metabolic issue)

Delayed responses on some things like the startle reflex, she did not show
the startle reflex at all until about 4 weeks and she's almost 7 weeks old
now and while she did start "talking" this week she's still sleeping 20-22
hours per day. (finally woke up at 3.5 months) (Turned out to be caused by metabolic issue)
<o:p> </o:p>
Pupils react differentially (different sizes with droopy eye usually being bigger) – <st1:street w:st="on"><st1:address w:st="on">Eye Dr</st1:address></st1:street>
<o:p> </o:p>
Eye sits lower in socket in droopy eye (face is slightly asymmetrical) – <st1:street w:st="on"><st1:address w:st="on">Eye Dr</st1:address></st1:street>
<o:p> </o:p>
Rubs droopy eye a lot
<o:p> </o:p>
Macular hypoplasia -Retinal Specialist
<o:p> </o:p>
Astigmatism in both eyes -Ophthalmology
<o:p> </o:p>
Moderate to severe acid reflux (seen on Upper GI @ 4 months due to really lose valve) -GI
<o:p> </o:p>
EGD/Sigmoidoscopy showed mild colitis at 4 months -GI
<o:p> </o:p>
Hypotonia in Trunk, neck flexors and extensors Dx’d at 2 months by Neuro, great improvement suddenly seen at almost 4 months. (Went from newborn floppy to 4 month development over a 3 week period) Gross motor delay noted by Geneticists at 5.5 months, rolls from side to side but does not roll over, sit or stand. (from metabolic issue)

<o:p> </o:p>
Heart murmur found by Geneticists, says it sounds innocent. Need to request cardio consult to confirm.
<o:p> </o:p>
Broad big toes and thumbs - Geneticists
<o:p> </o:p>

Short Clavicles with bones soft –Geneticists



palmar crease






<o:p> </o:p>

[jennifer kichar]

Cheryl you and Clara look so sweet together at the aquarium I would never guess you guys have SCS.It seems that whatever syndrome Jeremy does have runs rampant in his daddys family.But whats weird is that we only know of one coronal baby the rest are metopic or saggital.Have you guys ever heard of metopics and saggitals being syndromatic? Satori, I hope your lil ones surgery went well-poor thing.Btw, if you get a chance could you show me an example of broad toes?I know probably a silly request but when Jeremy was born,before we knew of cranio,we would always comment on his short blocky feet and big great toe(his toe nails just peel off too but thats prob nothing).Also his 2nd and 3rd toes look almost "duplicated" as well as do his fathers.Is that common in SCS?Your so right there are no photos of SCS kids or adults- it drives me nuts.Well if he tests positive I'll send you my husbands family portrait because they all seem affected.

[jennifer kichar]

Btw,I hope I didnt offend anyone by saying that I would never guess that cheryl and her dd has SCS.As if people with syndromes should be easily recognizable.I should have worded that differently Im sorry

[cheryl2]

I wasn't offended Jennifer, don't worry. I think I have a big broad toe, later tonight, I can take a picture of my foot, lol, but I have to go make dinner now. Thanks for the compliments on the fish picture, my uncle took that, he's a professional photographer, makes a difference :-)

[jennifer kichar]

Id love to see your big toe!

[cheryl2]

OK, I did my hand too, just for the heck of it. You all can see my crooked pinky and weird hand shape. I guess I don't really know if I have a broad toe, but it sure looks a lot bigger than the other toes. What I've seen mentioned for SCS is webbed fingers and toes. Mine aren't webbed, just weird :-)

By the way, my ring size is 3 1/2. Most people are about a 6 or 7.

http://i52.photobucket.com/albums/g12/cheryl2_2006/hand004.jpg

http://i52.photobucket.com/albums/g12/cheryl2_2006/hand002.jpg

[jennifer kichar]

Thanks.My sil pinky and ring finger are bent-shes always complaining about her fingers but its very subtle and I never thought anything about it

[Andi]

Hey, just saw this thread -- I'm rarely here, but always interested in SCS stuff.

I had my (and thus my family's history of) SCS genetically confirmed when we were getting counseling prior to conceiving our little girl. I have a deletion in the TWIST gene, not a mutation. My family seems to have had a fairly mild case -- only my cousin and I have had surgeries for our cranio (both over 30 years ago). My cousin has a daughter as well who appears to have inherited the SCS, but he's been told she doesn't need surgery for the cranio. (?? that's what he said, so there ya go.)

I have loads of pics of myself and my daughter Julia here: www.juliahunt.net Julia does not have the syndrome, and that's a long and involved story as to why that is. :) I have slight ptosis in one eye, strabismus in that eye, and a lump on my head from the CVR I had when I was two. I apparently have "broad toes" (the geneticists said I did, I never thought they were broad, to be honest) and I do have slight webbing between my index and second fingers -- almost up to my first knuckle. My pinky fingers are also teeny and bent. You might notice other features in the pictures -- my ears are teeny, thick skin on my hands, stubby fingers, etc.

[Lisa]

oh my word Cheryl, my toes are so similar to yours it is scary. I will have to take a pic of them this evening. I believe I have muenke, like my son but I have not been tested yet. My big toe is a little broader than yours, and my other toes have VERY similar shapes to yours. Wow. My pinky is also crooked. I'll take pics of my hands too. I cannot believe the similarities in our hands and feet.

[Satori]

Hey everyone!

I just wanted to thank everyone for sharing there pictures and sorry I disapeared, Lilly had her ptosis repaired on wednesday and it looked fantastic for about 24 hours and then the swelling started... its ugly, red, very swollen and oozing pus and blood and she is not a happy camper so I've been busy dealing with that:(

Cheryl,
Clara is darling:) From the pic I could not tell you had the syndrome, you look *normal* if you know what I mean:) That pic with the fish is awesome! I wish I had someone to take cool pics of us like that:)

Andi,

I just had to go finger hunting in your pics after your post lol, you really have to be looking to notice it. I don't think I would even notice it in person if I didn't know to look for it.


jennifer,

Got your email and will get pic's back to you tomorrow:) Thanks!:)

[joshuasmummy]

hi. just been looking thru the syndrome forum and came across this thread. i noticed on here alot of you are saying you have bent little fingers. josh has bent little fingers. we were told it was called clinodactyly. He also has a toe much shorter than his others. we were told that because he has single cranio (sagittal) that none of this would be related to a syndrome. anyway a couple of months ago we found out josh has Metopic too. do you think now i should push genetic testing? he doesnt show any other symptoms though unless they are there but im not seeing them. also it dawned on me my brother has slight webbing between two toes on one foot. he doesnt have cranio. also josh over the last few weeks has suddenly grown dark long hairs on his back. they are dotted all over his back not in clumps. there are about 20-30 of them. anyone heard of this happening?

[Lisa]

Heidi, if you suspect a syndrome at all, I would get in touch with a geneticist, if for anything to ease your mind. There are syndromes related to single suture cranio, and they are finding more of them all the time. Since this thread was started, I have been diagnosed with muenke syndrome as well, I didn't have cranio, and I have gone my entire life never even knowing I had this. Now that we know more, I have traced the muenke syndrome traits back to 3 generations, without any other family members being tested.

[joshuasmummy]

thanks lisa. im seeing josh consultant on thursday, he keeps an eye on the development side. going to mention it to him again. i have not seen him since we were told josh might be Metopic.

[NixyBee]

1133

This is me and my mum, She had/has it mildly and didn't have any surgery, they didn't even know about the condition 50 years ago, this is her at her 50th birthday. I was quite bad but since researching it myself was by no means servere, I did need surgery as a baby an have scar from ear to ear. In that pic I was 21.

We're currently waiting for August when my daughter has an appointment with a consultant to see if she also has it (by which time she will be 3 months). We think she probably has but will wait an see but this is her the day she was born.
1134

[Stacey]

Hi, I have never posted on anything like this before, but my 18 month old son has just been tested for sathre chotzen syndrome and I have struggled to find any decent information about this condition. He has had surgery for left coronal synostosis but doesnt seem to have any other symptoms. We have no history of anything like this in our family and our 3 and a half year old daughter has no health issues at all. We are hoping the test results come back negative especially as we are trying for number 3. Does anyone know if you would normally have a bit of family history with a syndrome like this. Thanks

[cheryl2]

Hi, Stacey,
Speaking for myself, my family does have a history of Saethre-Chotzen. Though my daughter was the first one to have cranio (right coronal), I and other members of my family showed other features of SCS. Syndromes are unpredictable; the same mutation can cause different features in different people, even within the same family. There's not a ton of information on SCS, it's rare. Here are some links, though you may have already found them, hope this helps.

http://ghr.nlm.nih.gov/condition=saethrechotzensyndrome
http://www.faces-cranio.org/Disord/Saethre.htm
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=scs

[bri21481]

I understand your pain and confusion. My son when he was being diagnosed with a syndrome was thought to have Saethre Chotzen Syndrome. After a month and a half of waiting for an answer they found out he has Greig cephalopolysyndactyly syndrome. It is extremely rare and there is very little information out there. I have contacted the Madison Foundation for rare disease to put me in contact with any families out there that are experiencing the same thing but, they have yet to find any. But, you should check, maybe they can help! It is always nice hearing from someone that is going threw the EXACT same thing as you. Good Luck!