Background: Kabuki syndrome is a rare genetic condition characterised by pathological changes within all the systems of the body, but with variable gene expression. All the patients described in the literature so far have specific facial features resembling the masks of actors from the Japanese Kabuki Theatre and mild to moderate mental impairment. Diagnosis is made based by genetic testing for mutations of the KMT2D and KDM6A genes. Therapy is mainly based on symptomatic alleviation of the effects of mutation, rehabilitation and improvement of the quality of patients’ life. Then prognosis of patients with Kabuki syndrome is closely related to the severity of symptoms, which is very variable. Aim of the study: The purpose of the study is to present the nursing problems based on the case report and to present complications caused by the disease entity. Material and methods: The criterion for including the patient in the study was the legal guardian’s (parent’s) consent for the child to participate in the study. Qualitative research was conducted using analysis of medical records, interview with the child and the child’s legal guardian, direct and indirect observation of the child for psycho-social changes related to the disease and interpretation of the data in the context of the theoretical knowledge and our own observations. Case report: The report is based on the case of a 16-year-old girl, diagnosed (at the age of fourteen) with rare genetic disorder – Kabuki syndrome. The patient experiences some characteristic symptoms – big, red lips, lowset and sticky-out ears, drooping eyelids and short fingers and toes. One of the first symptoms suggesting Kabuki syndrome were: spitting up during breastfeeding, problems with swallowing, motor clumsiness and epilepsy. The role of the nursing team during hospitalization was to take care because of habitual dislocation of patella, and to provide psychological suport. At present time the girl uses a wheelchair or she moves on her knees Results: The manifestations of chronic disease contribute to the feeling of excessive stress, regardless of the patient’s age. An adequate diet enriched with proteins contributes to the prevention of bedsores among individuals with Kabuki syndrome, immobilised to various degrees. Regular consultations with specialists, such as cardiologist, neurologist, gastroenterologist, orthopaedist, ophthalmologist, psychologist, orthodontist, speech therapist, immunologist, endocrinologist and dietician reduce the risk of complications associated with the disease in the patient with Kabuki syndrome. Early implementation of rehabilitation, focused to increase muscle tension, contributes to maintaining autonomy and self-care in patients with Kabuki syndrome.
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