Attempt #2 Syndrome Features

[Lisa]

I am interested to see how many of the cranio syndromes have similar characteristics, if your child has a syndrome, please select any/all of the features that are present.

[Christina's_Mommy]

Christina has the low-set ears, wide set eyes, short,broad thumbs/big toes and short fingers/toes.

I don't know about some of those others like the hearing yet but eventually I will.

How do you know if they have a low hairline?

[Lisa]

The hair line on the front forehead, Bradley's hair line starts a lot lower down on his forehead than normal, it's not a big deal, but something I have heard many talk about.
I forgot to put the wide set eyes on here, dang it.
It would be great if those voting would also indicate which syndrome you/your child has.

[Mom2Julia]

Julia has low set ears, one smaller ear canal, vision problems (underdeveloped optic nerves), high & narrow pallate, not a split uvula but an almost non-existant one which they say is part of her sub-mucosal cleft pallate, there may be some mild hearing loss but not totally sure yet. Syndrome name is rare..."Tetrasomy 15q25" (mosaic). Basically she has 4 copies of chromosome 15 at breakpoint of 25.

Her abnormalities are midline and besides these things and the metopic cranio, she has scoliosis, 1 kidney & overall low muscle tone.

[Maddy's Mom]

Maddy has Saethre-Chotzen. I checked off small ear canals, low hairline, broad toes, high palate. I should have checked off eyes too, but forgot about her ptosis.

[Tawnia]

Azia has no syndrome (that we know of yet) but has a lower hairline and small ear canals.

[craniomommynbaby]

I responded with a combo for Simon and me and other family members. I have the vision problems and wide big toes. My pinkie toes are curved sideways, and I have a host of foot problems. I have some hearing loss, but I think it is related to chronic ear infections and excessive antibiotics. My mother has the shortened fingers and ptosis. Simon has a high palate and odd folds in his ears. His right foot used to be curved and folded in, but he has mostly outgrown that. My right foot sort of does that, too. Also, I have lots of problems with pronation, a collapsed arch, and plantar fasciitis.

The test for the TWIST mutation (Saethre-Chotzen) came back negative. Their next guess is Crouzon's, but I am hesitant to continue testing until laws better protect people with such a diagnosis.

[fumbling22]

Is a high palette a narrow and super arched palette?

This is probably going to sound kind of twisted .. but lately I've been looking for physical signs that could indicate that Blake has a syndrome. I kind of feel like a bad mom for this... shouldn't I think he's perfect in every way? So far, I have metopic cranio, a really narrow arched palette, hypospadias, and kind of weird looking feet (most of his toes look like they're the same length).

I kind of have a reason for this. In July, I went to my family reunion and saw a cousin's son that I had never seen. He was about 2 and he looked A LOT like Blake. Everyone kept commenting on how much they looked alike. He had a really narrow forehead and close set eyes. I didn't see a ridge or get a birdseye view of his head. I wish I would have just snapped a picture. Anyhow, I just can't believe a non-cranio kid could look so much like my metopic baby (pre-op). Also, if my cousin's son actually has cranio ... it seems like it could be a genetic thing, right?

[tmbee]

Ethan has Crouzon's. I checked low-set ears and a deviated septum. As for hearing loss...don't know that yet. While he does have proptosis...no indication yet of any vision problems.

As for his palate...he has an inverted "v" palate.

tm

[Elizabeth]

Isaac has one low set ear...one doctor says he has a high palate, one says no...and he is nearsighted and has an astygmatism in both eyes. His pedi told me last week that he can't see into his left ear, so I am wondering whether there is something wrong with the ear canal. I am going to ask the geneticist about it on Friday.

It'll be interesting to see what the geneticist notices this time! Last time he had widely spaced nipples, a "line" across the bottoms of his feet, uneven ears, hypotonia...I can't remember what else off the bat.

[momtokendall]

Kendall has low-set ears, a high palate, broad thumbs and toes, and a very mild hearing loss. Here are some recent pictures of her. Is'nt she cute?

http://i305.photobucket.com/albums/nn231/momtokendall/DSC_0128.jpg

http://i305.photobucket.com/albums/nn231/momtokendall/DSC_0111.jpg

[amizzle]

Oh my, she is absolutely darling!

[momtokendall]

Thanks! Sorry those pictures are so big!

[Elismom]

We think Elijah has Jacobsen Syndrome, not sure yet because we are waiting on the genetics appointment. He has Saggital Stenosis, low set ears with very narrow ear canals, his eyes are wide set apart, the broader thumbs and big toe, high arching palate and eye problems (he had muscle control problems with his right eye). Do any other kids with syndromes have SPD-Sensory Processing Disorder- or any other symptoms that mock autism??

[jennahlynne]

carter : the list is big so be prepared...undecended tetical, small fingers broad thumbs, short toes, short arms, metopic cranio, 25 decible hearing loss, high palate, narrow palate, his thumb seems smaller when looking at all fingers, there are other wierd things about him that we just can place..his ears and feet,,,did i mention that he is 14lbs 10 month old baby and only 25" long...does any one have any idea what could be wrong with him...we are ona huge waiting list for a genetisit

[Avery's Mom]

carter : the list is big so be prepared...undecended tetical, small fingers broad thumbs, short toes, short arms, metopic cranio, 25 decible hearing loss, high palate, narrow palate, his thumb seems smaller when looking at all fingers, there are other wierd things about him that we just can place..his ears and feet,,,did i mention that he is 14lbs 10 month old baby and only 25" long...does any one have any idea what could be wrong with him...we are ona huge waiting list for a genetisit

It sounds a bit like a chromosome disorder......the genetecist can tell you for sure. Avery has Trisomy 14q, whcih means he has extra DNA on his 14th chromosome. There are many others......you might check out this website......http://www.rarechromo.org/html/LittleYellowBook.asp

[Leighasmom]

Leigha has low-set ears, eyes that are farther apart, high arched palate, short fingers and short toes...much shorter in her pinky finger... familial history and no gene defect on any of the known syndromes Leighas aunt who was uncorrected cranio had the top of her ears folded but Leigha's easrs do not fold Leigha has real fine hair that drives me nuts because it doesn't grow long...um I think thats all.. Oh and she looks just like every other bicoronal baby when you match pictures I've noticed they all look alike(a topic of discussion a lot of us cranio mommies used to get into here) so there are other slight charecteristics I cant put my thumb on.

[susanna]

am not too sure wat my son has yet. But I noticed abumb on his head and now this iswat he might have if anyone has the same situation please email me at susanna1721@gmail.com thsnks

[rubyri]

I'm late responding but Jenna has cleft palate with split uvula; narrow ear canals but we aren't sure about hearing yet; ptosis of left eyelid; small jaw (so does my husband); two of her toes overlap (so do my mother's). She is diagnosed with Ring Chromosome 18.

I noticed the ridge on her head shortly after she was born but every dr. I asked thought it was just an overlapping suture. When we consulted with the PS about her palate repair, he ordered the CT Scan to confirm right coronal cranio. I checked with our geneticist, because we already had a diagnosis, but typically they see multiple fused sutures in syndromes. I am hoping she won't go on to fuse additional sutures prematurely and that this one fused early because she was IUGR, premature, delivered via c-section.

[Leighasmom]

Leigha has an unfounded unnamed syndrome, they assigned her Muenke's but she doesn't have the gene mutation on any of the known genes effected by these cranio syndromes.

She has bicoronal cranio, high arched palate, narrow ear cannals, lower set ears than most but not noticible to anyone but me, distinctive midface and eyes of most bicoronal kids I see (despite surgery I think they all look alike) middle pinky bones of both hands are shortened and her hair won't grow past her shoulders...I think she might have short anagen syndrome and am praying that as she hits puberty her hair will finally grow. No learning delays, no hearing problems, no eye problems except I'm sure she'll be found near sighted.

[Leighasmom]

Kendall has low-set ears, a high palate, broad thumbs and toes, and a very mild hearing loss. Here are some recent pictures of her. Is'nt she cute?

http://i305.photobucket.com/albums/nn231/momtokendall/DSC_0128.jpg

http://i305.photobucket.com/albums/nn231/momtokendall/DSC_0111.jpg
see what I mean Leigha looks just like her..lol too cute tho

[Andrea Costa]

Cristóvão has low set ears, narrow ear cannal, two of the fingers (2nd and 3rd) of both his feet are fused, high palate, his thumbs are wide and bend outwards from rest of feet, and I recently noticed after reading a thread about SCS that his pinkies bend inwards. He is bicoronal and was primarly diagnosed as Jackson-Weiss Syndrome, which is very similar to Muenke syndrome, but more rare. And I agree with Leigha´s mum, I think all bicoronal kids look very much alike, specially when babies! It´s funny how I got so used to their looks I REALLY think they are all so cute.
Oh, he had eyes and hearing tests that turned out normal.

[momtokendall]

The similarities are SO interesting!