Kabuki syndrome


Gene Reviews

Kabuki syndrome, also previously known as Kabuki makeup syndrome, KS or Niikawa–Kuroki Syndrome, is a congenital disorder with multiple congenital anomalies and intellectual disabilities. It is very rare, affecting roughly one in every 32,000 individuals.

There is a wide range of congenital problems associated with Kabuki syndrome with large differences between affected individuals.Typical facial features include elongated palpebral fissures with eversion of the lateral third of the lower eyelid, arched and broad eyebrows with the lateral third displaying sparseness or notching, short columella with depressed nasal tip and large, prominent or cupped ears. Other findings may include: congenital heart defects, genitourinary anomalies, cleft lip and/or palate, gastrointestinal anomalies including anal atresia, ptosis and strabismus, and widely spaced teeth and hypodontia. Musculo-skeletal anomalies include brachydactyly V, brachymesophalangy, clinodactyly of fifth digits, spine abnormalities and joint hypermobility and dislocations. Dermatoglyphic abnormalities with persistent prominent fetal fingertip pads are a cardinal sign of KS. Functional differences may include increased susceptibility to infections and autoimmune disorders, seizures, endocrinologic abnormalities including isolated premature thelarche in females, feeding problems, and hearing loss.

There are two genes known to cause Kabuki syndrome. Between 55-80% of KS cases are caused by variants in the KMT2D gene. This gene plays an important role in protein modification and gene activity.  Another portion of individuals with Kabuki syndrome have mutations in the KDM6A gene. This gene regulates gene activity and is thought to produce a product that works with the product form KMT2D to control developmental processes.

Purpose: Confirmation of Clinical Diagnosis

Methodology: Sequencing of entire coding region

Test Requisition: Sequencing Requisition

Specimen Requirements: 2-5 mL Blood- Lavender Top Tube

CPT Codes: 81479x2 Cost: $1400.00  (Oklahoma Medicaid requires preauthorization for this test)

Turn-around-time: 6 weeks

Shipping Information


1. Digilio, M. C., Marino, B., Toscano, A., Giannotti, A., Dallapiccola, B.(2001) “Congenital heart defects in Kabuki syndrome”. Am. J. Med. Genet. 100: 269-274.

2. Halal, F., Gledhill, R., Dudkiewicz, A. (1989) “Autosomal dominant inheritance of the Kabuki make-up (Niikawa-Kuroki) syndrome”. Am. J. Med. Genet. 33: 376-381.

3. Hughes, H. E., Davies, S. J. (1994) “Coarctation of the aorta in Kabuki syndrome”. Arch. Dis. Child. 70: 512-514.


Contact Information
Genetics Laboratory
University of Oklahoma Health Sciences Center
1122 NE 13 Street, Suite 1400, Oklahoma City, OK 73104
Phone: (405) 271-3589 |Fax: (405) 271-7117 Email: Dr. Shibo Li



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