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Q: Jaboki? syndrome ( Answered 4 out of 5 stars,   1 Comment )
Question  
Subject: Jaboki? syndrome
Category: Miscellaneous
Asked by: nugget1941-ga
List Price: $4.00
Posted: 02 May 2004 23:06 PDT
Expires: 01 Jun 2004 23:06 PDT
Question ID: 340127
A medical syndrome discovered /recognised/in Japan, Symptons include
deafness.digestive problems.development delay
Answer  
Subject: Re: Jaboki? syndrome
Answered By: crabcakes-ga on 02 May 2004 23:43 PDT
Rated:4 out of 5 stars
 
Hello nugget, 

I believe you mean ?Kabuki Syndrome?, so named because the facial
features of  patients with this syndrome reminded doctors of the
Kabuki actors of traditional Japanese theater.

Kabuki syndrome was first "discovered" in 1980, in Japan, as you
already knew, and believed possibly to be caused by a defective
chromosome.  Symptoms are very diverse patient to patient, and only
100 to 300 cases have been documented. Children are learning disabled,
suffer hearing loss, have skeletal abnormalities and  easily
recognizable facial features. They are usually hypersensitive to
touch. There is no cure.
Kabuki Syndrome 
http://www.kabukisyndrome.com/kabuki.html

?The incidence of the disorder in Japanese newborns was estimated at 1 in 32,000?
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147920

http://www.kidwatch-uk.net/Special/kabuki.htm

http://www.entjournal.com/htmlDocs/september_98_syndrome.html

http://www.kumc.edu/gec/support/kabuki.html

http://www.specialchild.com/archives/dz-024.html

Hope this is what you were seeking. If not, please request an Answer
Clarification, before rating. This will allow me to assist you
further, if possible.

Regards,
crabcakes

Search Terms
Japanese syndrome deafness
Kabuki  syndrome
nugget1941-ga rated this answer:4 out of 5 stars and gave an additional tip of: $2.00
Thank you . Just what I was looking for.

Comments  
Subject: Re: Jaboki? syndrome
From: crabcakes-ga on 03 May 2004 07:47 PDT
 
Thank you for the tip-and glad I was helpful!

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