Congenital syndrome characterized by multiple congenital
anomalies, typical facial features (regardless of ethnic origin), and
mild-to-moderate mental retardation. Significant cardiac malformations have
Kabuki Make-up Syndrome; Niikawa-Kuroki Syndrome.
First described in 1980 by the two Japanese physicians N. Niikawa and Y. Kuroki. Phenotype
resembles the make-up of actors in Kabuki (traditional Japanese theater).
However, patients and their relatives often dislike the term “make-up.”
1:32,000 of Japanese newborns; less in non-Japanese.
Autosomal dominant, arising from sporadic
mutations; equal male-to-female ratio. The genetic defect has been mapped to 8p22-23.1.
Unknown. Resembles a genetic disorder; however,
there is little evidence regarding the mode of inheritance.
Niikawa and Kuroki described five major groups of
abnormalities: (a) abnormal facies, eversion of lower lateral eyelid, arched
eyebrows (sparse in the lateral third), depressed nasal tip and prominent
ears; (b) skeletal anomalies; (c) dermatoglyphic anomalies; (d) mental
retardation; and (e) postnatal growth deficiency.
Skeletal abnormalities include high-arched
palate, cleft palate, scoliosis, sagittal cleft vertebrae,
vertebral osteopenia, dysplasia of femoral acetabulum, and brachydactyly. Early breast
development is seen in 23% of girls. Congenital heart disease is reported
in approximately one-third of patients, including single ventricle with common atrium,
ventricular septal defect, atrial septal defect, tetralogy of Fallot,
coarctation of the aorta (often juxtaductal), patent ductus arteriosus,
transposition of the great arteries, and right bundle branch block. Hepatic anomalies such
as extrahepatic biliary atresia and neonatal sclerosing cholangitis have been described and
required liver transplantation in some patients.
Kidney anomalies (fused kidneys) and ureteropelvic stenoses with hydronephrosis may result
in renal failure.
Stenosis of the upper airway (main bronchus), abnormal branching pattern of the lower
airways, and bronchomalacia have been reported in a few patients. Congenital diaphragmatic
hernia is occasionally present.
More than half of these patients have a form of hearing loss (conductive and/or sensorineural).
Recurrent otitis media is a common
finding. Dental anomalies (e.g., conical incisors, hypodontia) are not uncommon.
Obtain a history of developmental
problems. Make specific inquiries for major skeletal and cardiac
abnormalities and previous cardiac surgery. Check renal and hepatic function. Airway assessment, congenital
defects of spinal column, mid-face hypoplasia, high arched palate, and cleft palate may make
airway management difficult. Respiratory function should be assessed
carefully in the presence of scoliosis, and formal lung function tests prior
to major surgery may be helpful. Assessment of the cardiac function should
include a complete history and examination, ECG, and echocardiography.
Cardiac catheterization as clinically indicated. Seizures are not uncommon, so assess
therapy and its efficiency.
Prepare for a potentially difficult
airway. Strictly avoid air bubbles in all intravascular lines in patients with cardiac defects and carefully maintain the ratio
of pulmonary to systemic vascular resistance, depending
on individual cardiac anatomy and presence of systemic to pulmonary shunts.
Consider the need for postoperative intensive care unit admission after