Kabuki syndrome

Common Name(s)

Kabuki syndrome, Kabuki make-up syndrome

Kabuki syndrome is a condition, present at birth, which affects many parts of the body. Affected individuals have facial features that resemble the make-up worn by actors of Kabuki, a Japanese theatrical form. Facial characteristics of Kabuki syndrome may include long eye openings that slant upwards, arched eyebrows, prominent ears, and corners of the mouth that turn downwards. This syndrome typically causes mild to moderate intellectual disability as well as problems involving the heart, skeleton, teeth, and immune system. Kabuki syndrome is inherited in an autosomal dominant pattern. Most causes are caused by mutations in the MLL2 gene.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Kabuki syndrome" for support, advocacy or research.

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Kabuki Syndrome Network

Together we strive to support families and professionals so that we may be in the best position to aid in the healthy development of our children.

Last Updated: 1 May 2014

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Kabuki syndrome" for support, advocacy or research.

Logo
Kabuki Syndrome Network

Together we strive to support families and professionals so that we may be in the best position to aid in the healthy development of our children.

http://www.kabukisyndrome.com/

Last Updated: 1 May 2014

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Kabuki syndrome" returned 31 free, full-text research articles on human participants. First 3 results:

Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene.
 

Author(s): Gerarda Cappuccio, Alessandro Rossi, Paolo Fontana, Emma Acampora, Valeria Avolio, Giuseppe Merla, Leopoldo Zelante, Aurelio Secinaro, Generoso Andria, Daniela Melis

Journal:

 

Kabuki syndrome (KS) is a rare, multiple congenital anomalies/intellectual disability syndrome caused by mutations of MLL2 gene, which codifies for a histone methyltrasferase that regulates the embryogenesis and the tissue development. Left-bronchial isomerism is a rare congenital ...

Last Updated: 17 Feb 2014

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Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome.
 

Author(s): Nancy Mizue Kokitsu-Nakata, Aline Lourenço Petrin, Jason Paul Heard, Siulan Vendramini-Pittoli, Laura E Henkle, Daniela Vera Cruz dos Santos, Jeffrey Clark Murray, Antonio Richieri-Costa

Journal: Am. J. Med. Genet. A. 2012 Aug;158A(8):2003-8.

 

Most patients with Kabuki syndrome (KS) are the only person in their family with the condition. However, familial cases of KS have been described showing evidence that this syndrome can be inherited as a dominant trait with variable expressivity. We report on two related individuals ...

Last Updated: 23 Jul 2012

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[Kabuki syndrome].
 

Author(s): J L Suarez Guerrero, A A Ordónez Suarez, G A Contreras García

Journal: An Pediatr (Barc). 2012 Jul;77(1):51-6.

 

Kabuki syndrome (OMIM: #147 920) presents as large palpebral fissures with eversion of the lateral third of the lower eyelids, depressed nasal bridge, arched eyebrows, dysplastic ears and in most cases, with mental retardation. Patients have minor and major abnormalities in different ...

Last Updated: 9 Jul 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Kabuki syndrome" returned 2 free, full-text review articles on human participants. First 3 results:

Congenital heart defects in Kabuki syndrome.
 

Author(s): Shi-Min Yuan

Journal: Cardiol J. 2013 ;20(2):121-4.

 

Kabuki syndrome (KS) is an entity of multiple congenital malformations with mental retardation with undetermined etiology. Congenital heart defects are one of the clinical manifestations of KS with insufficient elucidations.

Last Updated: 5 Apr 2013

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Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome.
 

Author(s): Damien Sanlaville, David Genevieve, Céline Bernardin, Jeanne Amiel, Clarisse Baumann, Marie-Christine de Blois, Valérie Cormier-Daire, Bénédicte Gerard, Marion Gerard, Martine Le Merrer, Philippe Parent, Fabienne Prieur, Marguerite Prieur, Odile Raoul, Annick Toutain, Alain Verloes, Géraldine Viot, Serge Romana, Arnold Munnich, Stanislas Lyonnet, Michel Vekemans, Catherine Turleau

Journal: Eur. J. Hum. Genet.. 2005 May;13(5):690-3.

 

Kabuki syndrome (KS) is a rare MCA/MR syndrome with an estimated frequency of 1/32 000 in Japan. This syndrome is characterized by postnatal growth retardation, distinctive facial features, dermatoglyphic anomalies, skeletal dysplasia, and mental retardation. The molecular basis of ...

Last Updated: 26 Apr 2005

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 21 Sep 2011

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