Related disorders

hi guys, does anyone know other than EDS, what other disorders are related to chiari? i saw people saying that its very rare someone is ONLY diagnosed with chiari - i was only diagnosed with chiari, but i also wasnt asked or spoken about other disorders or given any tests for any....

Disorders associated with CM-I

craniosynostosis
Antley-Bixler syndrome
Apert syndrome
Crouzon syndrome
Jackson-Weiss syndrome
Kleeblattschädel syndrome
Loeys-Dietz syndrome Type I
Seckel syndrome
Shprintzen-Goldberg syndrome
endocrinology
achondroplasia
acromegaly
growth hormone deficiency
hyperostosis
craniometaphyseal dysplasia
erythroid hyperplasia
osteopetrosis
Paget disease
bone mineral deficiency
Familial vitamin D–resistant rickets
cutaneous disorders
acanthosis nigricans
blue rubber bleb nevus syndrome
giant congenital melanocytic nevi
LEOPARD syndrome
macrocephaly-cutis marmorata telangiectatica congenita
neurofibromatosis Type I
phacomatosis pigmentovascularis Type II
Waardenburg syndrome
spinal defects
atlantoaxial assimilation
basilar impression
caudal regression syndrome
Klippel-Feil syndrome
lipomeningomyelocele
odontoid retroflexion
spondyloepiphyseal dysplasia
space-occupying lesions
other
Beckwith-Wiedemann syndrome
CHERI
cloacal exstrophy
Costello syndrome
cystic fibrosis
Ehlers-Danlos syndrome
Fabry disease
Kabuki syndrome
Pierre-Robin syndrome
situs inversus
Williams-Beuren syndrome

Dustin also has lumbar and thoracic scoliosis which several of the specialists we saw attributed the severity to the CM1. Echolalia is another of the more unique conditions he has been diagnosed with that is not considered a symptom, but rather a separate condition by his doctor.

I have Syringomyelia along with mine, go me!

I’m with you Mary and now spinal bifida occulta (spelling?) which to my understanding isn’t always a major deal

I was also wondering this too. I am trying to get our insurance to pay for genetic testing. They have denied it twice and now we are appealing it. I just cannot figure out why my son would have gotten this and think it must be genetic somehow; there is a bad gene somewhere.

I suspect that you are being denied genetic testing because there is not currently any accurate genetic testing for Chiari. The gene research is still in the early stages of development. A major genetic/familial study is ongoing at Duke, funded by NIH, but it will be a long time before any definitive results are available. This type of research is much more complicated than one would think. Google Duke Chiari research for more info. I heard the lead researcher present on this about a year ago and it is very promising but nothing that can be used definitively at this stage, unless something has changed since a year ago.

Kate

My neurologist tested me for some. I have A1298c gentic mutation too

Hi Jewel,

Was this testing specifically for Chairi malformation or for related disorders?

Thanks,

Kate

No. It came up in ablood test. Doing genetic testing next.

They have not to date found a genetic marker in the Duke study for Chiari Malformations. The study started 6/09 and ends 6/14.

http://www.clinicaltrials.gov/ct2/show/NCT01060800?term=chiari+malformation%27&rank=9

Under the Research Group there is a long discussion on Genetics/CM/Related Disorders and I included a link to another discussion where Dr. Trumble wrote about the genetic possibility of CM & Related disorders and it made a lot of sense why nothing is being found in these studies. Very Interesting.

wow! thanks everyone. I’ll have to do some research!