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Kabuki Make-up Syndrome
Important
It is possible that the main title of the report Kabuki Make-up Syndrome
is not the name you expected. Please check the synonyms listing to find
the alternate name(s) and disorder subdivision(s) covered by this report.
Synonyms
- KMS
- Niikawa-Kuroki Syndrome
Disorder Subdivisions
- None
General Discussion
Kabuki Make-Up Syndrome is a rare disorder characterized by mental retardation, short stature, unusual facial features, abnormalities of the skeleton and unusual skin ridge patterns on the fingers, toes, palms of the hands and soles of the feet. The majority of the reported cases of this disorder have occurred for no apparent reason (sporadic). However, several cases have been reported to be inherited as an autosomal dominant trait.
Resources
National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
8A07
Bethesda, MD 20892-2540
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Email: braininfo@ninds.nih.gov
Internet: http://www.ninds.nih.gov/
Supporting Aussie Kids with Kabuki Syndrome
Tel: (08-)826-40209
Internet: http://www.sakks.org
For a Complete Report:
This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org
Last Updated: 10/13/2004
Copyright 1992, 2000 National Organization for Rare Disorders, Inc.
WebMD Medical Reference from the National Organization of Rare Disorders
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