Joubert Syndrome and Related Disorders: Implications for Nurse Practitioners

Joubert syndrome (JS) and related disorders (JSRD) are rare autosomal recessive disorders typified by a distinctive cerebellar and brainstem malformation. The diagnosis of JSRD requires the neuroradiological “molar tooth sign” found on magnetic resonance imaging. Many children affected with the disorder die in infancy before diagnosis. Rare diseases or syndromes can pose unique challenges for primary care providers who participate in the day-to-day care of chronically ill and physically and mentally challenged children. This article discusses JS and JSRD to provide insight for primary care providers caring for these special children and adults.