Kabuki syndrome: diagnostic and treatment considerations.

[kabuki syndrome]

Kabuki syndrome (KS ) is a rare genetic disorder first diagnosed in 1981 . Unknown by most primary care physicians and clinicians in the mental health fields , children with KS present with unique facial characteristics , mental retardation , health problems and socio-emotional delays that are often mistaken for other diagnostic problems . Literature detailing the psychological and psychosocial features of this disorder is scant , and psychotherapeutic approaches have not been described . In this article , we present a case description and treatment of a child with KS and her family . A brief review of KS is then provided , highlighting its signs and symptoms . Factors related to differential diagnoses are identified to aid primary care and mental health clinicians in better understanding this unique syndrome . Interventions with similar populations are discussed from which a psychological approach to KS is suggested . Finally , implications for primary care physicians are described and suggestions for further research indicated .