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 39 free, full-text research articles on human participants. First 3 results:

Spinal ependymoma in a patient with Kabuki syndrome: a case report.
 

Author(s): Davide Roma, Paolo Palma, Rossella Capolino, Lorenzo Figà-Talamanca, Francesca Diomedi-Camassei, Francesca Romana Lepri, Maria Cristina Digilio, Carlo Efisio Marras, Raffaella Messina, Andrea Carai, Franco Randi, Angela Mastronuzzi

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Kabuki syndrome is a rare disorder characterized by the association of mental retardation and postnatal growth deficiency with distinctive facial appearance, skeletal anomalies, cardiac and renal malformation. Two causative genes have been identified in patients with Kabuki syndrome. ...

Last Updated: 5 Sep 2015

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RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.
 

Author(s): Nina Bögershausen, I-Chun Tsai, Esther Pohl, Pelin Özlem Simsek Kiper, Filippo Beleggia, E Ferda Percin, Katharina Keupp, Angela Matchan, Esther Milz, Yasemin Alanay, Hülya Kayserili, Yicheng Liu, Siddharth Banka, Andrea Kranz, Martin Zenker, Dagmar Wieczorek, Nursel Elcioglu, Paolo Prontera, Stanislas Lyonnet, Thomas Meitinger, A Francis Stewart, Dian Donnai, Tim M Strom, Koray Boduroglu, Gökhan Yigit, Yun Li, Nicholas Katsanis, Bernd Wollnik

Journal: J. Clin. Invest.. 2015 Sep;125(9):3585-99.

 

The genetic disorder Kabuki syndrome (KS) is characterized by developmental delay and congenital anomalies. Dominant mutations in the chromatin regulators lysine (K)-specific methyltransferase 2D (KMT2D) (also known as MLL2) and lysine (K)-specific demethylase 6A (KDM6A) underlie ...

Last Updated: 2 Sep 2015

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Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome).
 

Author(s): Yi-Hsing Chen, Ming-Hui Sun, Shao-Hsuan Hsia, Chi-Chun Lai, Wei-Chi Wu

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Kabuki syndrome is a multi-system disorder with peculiar facial features, and ophthalmic abnormalities are frequently involved. This case report of a child with Kabuki syndrome describes two new previously unreported ophthalmic conditions.

Last Updated: 28 Nov 2014

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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 3 free, full-text review articles on human participants. First 3 results:

Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations.
 

Author(s): Shuang Liu, Xiafei Hong, Cheng Shen, Quan Shi, Jian Wang, Feng Xiong, Zhengqing Qiu

Journal:

 

Kabuki syndrome is a rare hereditary disease affecting multiple organs. The causative genes identified to date are KMT2D and KDMA6. The aim of this study is to evaluate the clinical manifestations and the spectrum of mutations of KMT2D.

Last Updated: 5 May 2015

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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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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 21 Sep 2011

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