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Kabuki Syndrome

Radina Ivanova, Krasimir Todorov, Georgi Ivanov, Milena Stoyanova


Introduction: Kabuki syndrome is a rare genetic disorder characterized by mental retardation and typical facial appearance presented by long palpebral fissures with eversion of the lateral third of the lower eyelids and a broad depressed nasal tip. Other clinically heterogeneous symptoms are congenital heart defects, neurological and endocrinological problems, short stature and skeletal abnormalities, postnatal growth deficiency. The aim of the study is to present a rare disease and follow the diagnostic process and management.

Materials and Methods: Articles about the syndrome were systematically reviewed.  Information about the condition was gathered by using print and digital sources.

Results: Because of the low incidence of Kabuki syndrome worldwide, the diagnostic process, and in particular mentioning Kabuki syndrome in the differential diagnosis, is very difficult. There are some clinical criteria which have to be present to make the clinical diagnosis. There are specific criteria for the different age groups. The next step is cytogenetic and molecular analysis, which can confirm the exact type of mutation causing the disorder. The management of the condition includes all kinds of specialists, such as neurologists, cardiologists, endocrinologists, dentists and other, depending on the abnormalities of the certain individual. Psychological consultations can also be needed. A genetic consultation for the next pregnancy is recommended due to the possibility that the condition is inherited by the parents.

Conclusion: It is thought that if the abnormalities that can cause problems in the future are properly treated in childhood age, the long-term prognosis is good. Life expectancy depends mostly on the cardiac problems and immunological complications.


Kabuki, congenital, diagnosis, management



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