Joubert Syndrome: A Rare Neurodevelopmental Ciliopathy and Its Implications for Nursing Practice

Abstract

Joubert syndrome (JS) is a rare genetic neurodevelopmental disorder characterized by malformations of the cerebellum and brainstem, leading to impaired motor coordination, developmental delay, abnormal breathing patterns, and ocular abnormalities. The syndrome belongs to a group of disorders known as ciliopathies, which arise from defects in primary cilia function. A characteristic neuroimaging feature, known as the "Molar Tooth Sign," is considered diagnostic of the condition. Although there is no definitive cure, early diagnosis and multidisciplinary management can significantly improve functional outcomes and quality of life. This review discusses the epidemiology, pathophysiology, clinical manifestations, diagnosis, management, prevention strategies, and nursing implications of Joubert syndrome.