Kabuki syndrome


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An idiopathic congenital complex that primarily affects the Japanese, which is characterised by a typical facial dysmorphia—long palpebral fissures, eversion of the lateral lower eyelids, arched eyebrows, and a broad depressed nose—fancifully likened to the white makeup worn in Kabuki theatre.

Kabuki syndrome

, Kabuki make up syndrome (ka-boo'ke) [From the resemblance of patients to actors wearing the white makeup of Kabuki theater]
An autosomal dominant disorder characterized by mild to moderate mental retardation, cranial and facial anomalies, poor muscle tone, and often cleft palate, seizures, heart defects, and other anomalies. Synonym: Niikawa-Kuroki syndrome
References in periodicals archive ?
Case Report: Autistic Disorder in Kabuki Syndrome. J Autism Dev Disord 2008; 38:198-201.
To mark Kabuki Syndrome T AwareA -ness Day on October 23, Jeanette and Emma are having a party at a play gym for Scarlett, Kareem and their friends.
Keywords: Kabuki syndrome, MLL2 gene, autoimmune thyroiditis, vitiligo
His daughter has rare Kabuki syndrome and hypoplastic left heart syndrome and has had major surgery twice.
The tot has the rare Kabuki syndrome, which affects her major organs.
Jasmine Steele, 18, a student at Percy Hedley School in Killingworth, has Kabuki syndrome, which causes development delay.
Vegas - who suffers from rare kabuki syndrome, which affects her major organs - was given drugs to fight the bacteria shigella.
Rosie's sister, Daisy, eight, has Kabuki syndrome, a cause of abnormalities such as short bones and learning difficulties.
"She was diagnosed with kabuki syndrome and had a lot of health issues but died unexpectedly on March 30, 2014, aged 10.
Vegas - who suffers from rare Kabuki syndrome, which affects her major organs - was put on a drip and given medicat ion to counter Shingella, an illness closely related to killer bug E Coli.
Last night, Vegas, who was born with rare Kabuki syndrome, was in isolation in the Penteli children's hospital along with her dad Alex and mum Karin.
Four-year-old Alisha, of Oakdale Terrace, Chester-le-Street, suffers Kabuki Syndrome, visual and hearing impairment and low muscle tone.