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NORD is very grateful to Louanne Hudgins, MD, FAAP, FACMG, Professor of Pediatrics, Chief, Division of Medical Genetics, Stanford University School of Medicine; Director, Perinatal Genetics, Lucile Packard Children's Hospital, for assistance in the preparation of this report.
Synonyms of Kabuki Syndrome
- Kabuki makeup syndrome
- Niikawa-Kuroki syndrome
- No subdivisions found.
Kabuki syndrome is a rare, multisystem disorder characterized by multiple abnormalities including distinctive facial features, growth delays, varying degrees of intellectual disability, skeletal abnormalities, and short stature. A wide variety of additional symptoms affecting multiple different organ systems can potentially occur. The specific symptoms associated with Kabuki syndrome can vary greatly from one person to another. The exact cause of Kabuki syndrome was recently determined. It is on the basis of a mutation in a gene called MLL2. Clinical testing is not available at the time of this publication.
Organizations related to Kabuki Syndrome
Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder (e.g., heart disease, intellectual disability, etc.)
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