Joubert Syndrome and Related Disorders

Implications for Nurse Practitioners

Laurie Anne Ferguson, FNP-C; Maritza Salgado, FNP-BC


Journal for Nurse Practitioners. 2012;8(4):316-322. 

In This Article

Abstract and Introduction


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.


Nurse practitioners play an essential role in health promotion, disease prevention, and identification of risk factors for various conditions. Experience and expertise contribute to practitioners' ability to successfully diagnose and treat patients with both common and rare conditions. Unfortunately, many primary care providers (PCPs) may not have sufficient exposure or knowledge of genetics.[1] A growing body of evidence demonstrates the contribution of genetic risk factors to many common disorders that are managed in primary care settings, such as cardiovascular disease, diabetes, renal disease, and cancer.[2] One in 10 patients seen in the primary care setting may have a disorder with a genetic component.

With advances in genetics, PCPs need to become more familiar with genetic conditions for referral, diagnosis, and counseling.[3] Genetic disorders often encountered in primary care include familial hyperlipidemia, Down syndrome, cystic fibrosis, and sickle cell disease; however, rare genetic disorders may also present to the PCP. Joubert Syndrome (JS) and Related Disorders (JSRD) is an example of a rare genetic disorder. PCPs play an important role in early identification, referral, and care coordination for individuals with physical and mental challenges, as well as chronic illness. Psychosocial support is critical to ensure optimal outcomes. This article discusses genetics and the challenges faced by families in the context of this rare genetic disorder.


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