Kabuki syndrome, also previously known as Kabuki makeup syndrome, KMS 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. Some common problems are heart defects urinary tract anomalies, hearing loss, hypotonia, and postnatal growth deficiency. Other characteristics include skeletal abnormality, joint laxity, and short stature. They often suffer from recurrent ear infections in infancy. In terms of development, mild to moderate intellectual disability is a common feature. A few have normal intelligence, most of whom have learning difficulties such as struggling with fine motor, speech skills.
About 70 percent of cases of Kabuki syndrome are caused by mutations in the MLL2 gene. This gene provides instructions for making a protein that is found in many organs and tissues of the body. The gene mutations associated with Kabuki syndrome lead to the absence of functional MLL2 protein. A lack of functional MLL2 protein disrupts its role in histone methylation and impairs proper activation of certain genes in many of the body's organs and tissues.
Methodology: Sequencing of entire coding region
Purpose: Confirmation of Clinical Diagnosis
ICD-10 Code Q99.9
Test Requisition: Sequencing Requisition
CPT Codes: 81479 Cost: $2569.00
Turn-around-time: 6-8 weeks
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.