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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
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Kabuki Make up Syndrome; Niikawa-Kuroki Syndrome.
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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.
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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.
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Autosomal dominant, arising from sporadic mutations; equal male-to-female ratio. The genetic defect has been mapped to 8p22-23.1.
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Unknown. Resembles a genetic disorder; however, there is little evidence regarding the mode of inheritance.
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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.
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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 ...