Introduction

Crouzon syndrome is a genetic disease causing a set of congenital cranial anomalies. The disorder results from a mutation in the FGFR2 gene. Abnormalities arising from the defect in the gene lead to severe cranial deformities due to the premature fusion of one or more cra-niofacial sutures.

Aim of the study

To present nursing and care of a patient with Crouzon syndrome using the International Classification for Nursing Practice (ICNP®) termi-nology.

Material and methods

The study was based on the research method of a case study using a range of case study tools and techniques, such as interview, obser-vation, and analysis of medical records of a two-year-old boy suffering from Crouzon syndrome. The identification of 12 nursing diag-noses along with nursing interventions was performed on the basis of the ICNP®.

Results and conclusions

Crouzon syndrome is a rare genetic disease that causes severe skull deformities and numerous disorders, as a result of which the treat-ment process is long and difficult for children and their carers. Patients require individual care tailored to their needs. The scope of nurs-ing interventions included monitoring according to ICNP®: the child’s status, signs of worsening pain, identifying deficits in child’s devel-opment, and providing informational and emotional support to child carers. In-depth observation allowed for early diagnosis and elimina-tion of constipation, gas exchange disorders through the tracheotomy tube, and skin integrity disorders in the area of gastrostomy and tracheostomy. Thanks to the ICNP® reference terminology, it was possible to formulate 12 diagnoses and appropriate nursing interven-tions to care for children with Crouzon syndrome.