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|Classification and external resources|
A child with Kabuki syndrome displaying the typical facial features
Kabuki syndrome, also previously known as Kabuki makeup syndrome, KMS or Niikawa–Kuroki Syndrome, is a pediatric congenital disorder of suspected genetic origin  with multiple congenital anomalies and intellectual disabilities. It is quite rare, affecting roughly one in 32,000 births. It was identified and described in 1981 by two Japanese groups, led by the scientists Norio Niikawa and Yoshikazu Kuroki. It is named Kabuki Syndrome because of the facial resemblance of affected individuals with white Kabuki makeup, a Japanese traditional theatrical form. On the Kabuki Syndrome listserv, children with this syndrome are called Kabuki Kids, or KKs.
There is a wide range of congenital problems associated with Kabuki syndrome with large differences between affected individuals. Some of the common problems are heart defects (30%), urinary tract anomalies, hearing loss (50%), hypotonia, and postnatal growth deficiency (83%). Other characteristics include skeletal abnormality, joint laxity, short stature, and unusual dermatoglyphic patterns. They often suffer from recurrent ear infections in infancy.
In terms of development, mild to moderate intellectual disability is a common feature, seen in 92% of patients. Also, children with Kabuki syndrome often have distinctive behavioural features. For example, 50% are described as unusually sociable, 30% as engaging in only minimal interaction with others, 74% as liking routine and 87% as having a happy disposition. A few have normal intelligence, most of whom have learning difficulties such as struggling with fine motor, speech skills, and memory.
There is no indication that the life expectancy of individuals with Kabuki syndrome is shortened. Most medical issues are resolved with medical intervention. The fact that there are relatively few adults known with this syndrome is probably related to its recent discovery in 1980 in Japan and around 1990 in Europe and America.
The facial appearance of individuals with this syndrome include long eyelids with turning up of the lateral third of the lower eyelid, a broad and depressed nasal tip, large prominent earlobes, and a cleft or high-arched palate.
Inheritance is thought to be autosomal dominant or X-linked recessive; several chromosomal abnormalities have been found, but none of them appear to be specific to Kabuki Syndrome. In August 2010, a study found that two thirds of the cases have a loss-of-function mutation in the MLL2 gene, which is coding for a histone methyltransferase; it can participate in epigenetic programming, and is thought to contribute to developmental processes.
- "Kabuki syndrome". Genetics Home Reference. Retrieved 11 February 2013.
- Yoshikazu Kuroki, Yasuyuki Suzuki, Hiroyuki Chyo, Akira Hata, Ichiro Matsui (October 1981). "A new malformation syndrome of long palpebralfissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation". The Journal of Pediatrics 99 (4): 570–573. doi:10.1016/S0022-3476(81)80256-9. PMID 7277097.
- den Biggelaar AM, Kuijpers-Jagtman AM, Bergé SJ, Katsaros C (December 2006). "Kabuki-syndroom, een congenitaal syndroom met multipele anomalieën (Kabuki syndrome, a congenital syndrome with multiple anomalies)". Nederlands Tijdschrift Voor Tandheelkunde (in Dutch) 113 (12): 516–9. PMID 17193989. Retrieved 2009-05-07.
- Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI et al. (2010). "Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome". Nat Genet 42 (9): 790–3. doi:10.1038/ng.646. PMC 2930028. PMID 20711175.
- Hughes HE, Davies SJ (June 1994). "Coarctation of the aorta in Kabuki syndrome". Archives of Disease in Childhood 70 (6): 512–4. doi:10.1136/adc.70.6.512. PMC 1029872. PMID 8048822.
- Burke LW, Jones MC (January 1995). "Kabuki syndrome: underdiagnosed recognizable pattern in cleft palate patients". The Cleft Palate-craniofacial Journal 32 (1): 77–84. doi:10.1597/1545-1569(1995)032<0077:KSURPI>2.3.CO;2. PMID 7727492.
|Wikimedia Commons has media related to Kabuki syndrome.|
- Supporting Aussie Kids with Kabuki Syndrome - Supporting families since 2004
- GeneReviews/NCBI/NIH/UW entry on Kabuki syndrome, Kabuki Make-Up Syndrome, Niikawa-Kuroki Syndrome
- GeneTests/NIH/NCBI/UW information on Kabuki syndrome gene testing
- ICD-9-CM Diagnosis 759.89 - Other specified congenital anomalies
- Kabuki Syndrome Network - An international Kabuki syndrome support website
- Kabuki UK - The only UK charity offering support to families affected by Kabuki Syndrome
- The Australian Kabuki Syndrome Association - Supporting Australian Kabuki Families