Skip to Main Content

At a glance

It is a congenital syndrome characterized by multiple congenital anomalies, typical facial features (regardless of ethnic origin), and mild-to-moderate mental retardation. Children with Kabuki Syndrome have a distinctive facial appearance characterized by micrognathia, blue sclerae, ptosis, strabismus, cleft lips and palate, palpebral fissures, everted lower eyelids, prominent eyelashes, arched eyebrows, a broad nose with a flattened or depressed tip, and large, misshaped ears. These facial features develop over several years. Other features include skeletal abnormalities that include brachydactyly, clinodactyly, flat feet, scoliosis, or kyphosis. Significant cardiac malformations have been reported. Anesthesiologists should be aware of the possibility of an unexpected difficult airway management, respiratory problems, neurological and musculoskeletal disorders, and latex allergy when managing anesthesia for a patient with Kabuki Syndrome

Synonyms

Kabuki Make up Syndrome; Niikawa-Kuroki Syndrome.

History

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). The disorder was originally called “Kabuki-Makeup Syndrome” in relation to the facial features of many affected children resembling the actors in Kabuki, a form of Japanese theater. However, patients and their relatives often dislike the term “make-up” and the term has since been eliminated.

Incidence

It is estimated to be 1:32,000 individuals in the Japanese population. Worldwide, the incidence true remains unknown; however, it has been estimated at 1:86,000. Kabuki Syndrome affects males and females in equal numbers. Three hundred cases have been reported in the medical literature. Although the disorder was first reported in Japan, Kabuki Syndrome can affect different ethnic groups.

Genetic inheritance

Autosomal dominant, arising from sporadic mutations; equal male-to-female ratio. The genetic defect has been mapped to 8p22-23.1.

Pathophysiology

Unknown. Resembles a genetic disorder; however, there is little evidence regarding the mode of inheritance.

Diagnosis

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.

Clinical aspects

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 ...

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.