| Kabuki syndrome | |
|---|---|
| Other names | Niikawa–Kuroki syndrome |
 | |
| A child with kabuki syndrome displaying the “scrunchy face” | |
| Specialty | Medical genetics  |
| Symptoms | Vary widely among patients but may include: Long eyelashes, depressed nasal tip, atypical fingerprints, ear deformity (macrotia or microtia), hypotonia, joint hyperflexibility, ptosis, blue sclera, cafe au lait spot, GU anomalies (e.g. hypospadias or horseshoe kidney), gi anomalies (e.g. anal atresia or intestinal malformation), hearing loss, immune deficiencies (e.g. hypogammaglobinemia), feeding difficulty (infants), obesity (adulthood), short stature, poor sleep, hyperinsulinemia (hypoglycemia), epilepsy, cardiac defects (e.g. coarctation of the aorta), vertebral anamolies (e.g. butterfly vertebrae), sparse lateral eyelash, finger anomaly (e.g. short 5th finger), cleft palate, dental issues, precocious puberty, scoliosis, hip dysplasia |
| Usual onset | Conception |
| Types | Type 1 (KMT2D), type 2 (KDM6A); other rare mutations unrecognized for now |
| Causes | Loss-of-function mutations in KMT2D or KDM6A genes |
| Diagnostic method | Clinical findings; genetic testing |
| Frequency | 1 in 32,000 births |
Kabuki syndrome (previously known as Kabuki-makeup syndrome (KMS) or Niikawa–Kuroki syndrome) is a rare congenital disorder of genetic origin.[1][2] It affects multiple parts of the body, with varying symptoms and severity, although the most common is the characteristic facial appearance.[3]
Kabuki syndrome affects roughly one in 32,000 births.[4] It was first identified and described in 1981 by two Japanese groups, led by scientists Norio Niikawa and Yoshikazu Kuroki.[5] It is named Kabuki syndrome because of the facial resemblance of affected individuals to stage makeup used in kabuki, a Japanese traditional theatrical form.[4]
There are two types of Kabuki syndrome. Type 1 is caused by pathogenic variants in KMT2D and Type 2 is caused by pathogenic variants in KDM6A.
- ^ "Kabuki Syndrome Gene Identified". National Institutes of Health (NIH). 2015-05-20. Retrieved 2017-10-26.
- ^ Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, et al. (September 2010). "Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome". Nature Genetics. 42 (9): 790–793. doi:10.1038/ng.646. PMC 2930028. PMID 20711175.
- ^ "Kabuki syndrome". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. Retrieved 2018-04-01.
- ^ a b "Kabuki syndrome". Genetics Home Reference, U.S. National Library of Medicine. Retrieved 15 April 2018.
- ^ Kuroki Y, Suzuki Y, Chyo H, Hata A, Matsui I (October 1981). "A new malformation syndrome of long palpebral fissures, 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.