Could she have a syndrome?

[keeperofthecheerios]

My daughter, Rylee, is 6 months old and we have been on a roller coaster ride since she was born. One month they're doing CT scans, measurements, and sending her to specialist and then the next they make it seem like no big deal. We have only seen one CFS , Dr Singhal at Children's Mercy when she was 6 weeks old. He is who diagnosed Rylee's dad, Jerrod, with Sagittal cranio. So she's not technically diagnosed with sagittal cranio yet (had CT 1/3/12 still waiting on results) but. I have a gut feeling she, and Jerrod, have a syndrome.I'm considering taking her to a geneticist but was wanting some input first because I don't know if I'm jst being paranoid. Here are a list of Rylee's symptoms that I notice:Low set earsNarrow ear canalspossible hearing issuesFrontal bossingMacrocephaly (99th%tile)Growing slowly (14th% for height 27%tile for weight-- was born in 45th%tile for height and 90th for weight)Her big toe seems broad but I don't really knowHer eyes are wide setJerrod:Low set earsNarrow ear canalsModerate hearing loss in right ear since he was littleWide set eyesMacrocephalyGap between big toe and 2nd toeRecessed chinMultiple sinus issues (has had 2 surgeries)I also believe his speech is affected, he is difficult to understand by some peopleHe has sagittal cranio but diagnosed only by sight, no physical exam or CT's have been performedIf you have any idea if they look like they may have a syndrome. or know what types to ask about please let me know!Here is Rylee: <img src=http://i257.photobucket.com/albums/hh214/npcoffey/IMG_20111229_110528.jpg border=0 alt=> (http://s257.photobucket.com/albums/hh214/npcoffey/?action=view&current=IMG_20111229_110528.jpg)Here is Jerrod, untreated sagittal: <img src=http://i257.photobucket.com/albums/hh214/npcoffey/Image10222010182355.jpg border=0 alt=> (http://s257.photobucket.com/albums/hh214/npcoffey/?action=view&current=Image10222010182355.jpg)

[cheryl2]

It's possible they have a syndrome. But I'm not sure which one. The only way to tell for sure is to have both their blood tested. Rylee is adorable by the way :)

[fitmomof2ae]

Rylee is beautiful! I don't know anything about syndromes, so I can't offer assistance. Good luck with your research.

[Amanda3796]

I don't know a thing about syndromes.....sorry. I just had to say I think your daughter is so so beautiful!!! She's giving me baby fever!!

I hope you get answers soon.

[momofprincess]

She is adorable!!!!! (I know that doesn't answer your question but thought I would put it out there.)

We also saw Dr. Sighal at CMH. He diagnosed my daughter with Sagittal in October. We just had surgery to correct it. You can PM if you have other questions. I know just enough about syndromes to be dangerous so I can really give any good advice other than it doesn't appear to be any of the common ones I see working with the special needs population.

Katie

[MikeysDad]

Please let me know if you do find anything out. Doctors have claimed our son was syndromic since birth.

By definition a syndrome is a series of anomalies that are present at birth. So, by definition, my son has a syndrome.

0He was born with bilateral congenital cataracts, mild micrognathia (overbite), low blood sugar, and lethargy. The root of each of these anomalies was supposedly found (mostly genetics), but now we have discovered his craniosynostosis (and his is not a typical case). I have also seen speculation that most complex craniosynostosis cases are syndromal. I have looked into most of the syndromes associated with cranio, and cannot match Mikey's case with any of them.