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Healthcare recommendations for Joubert syndrome

Lookup NU author(s): Professor John SayerORCiD


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© 2019 Wiley Periodicals, Inc. Joubert syndrome (JS) is a recessive neurodevelopmental disorder defined by a characteristic cerebellar and brainstem malformation recognizable on axial brain magnetic resonance imaging as the “Molar Tooth Sign”. Although defined by the neurological features, JS is associated with clinical features affecting many other organ systems, particularly progressive involvement of the retina, kidney, and liver. JS is a rare condition; therefore, many affected individuals may not have easy access to subspecialty providers familiar with JS (e.g., geneticists, neurologists, developmental pediatricians, ophthalmologists, nephrologists, hepatologists, psychiatrists, therapists, and educators). Expert recommendations can enable practitioners of all types to provide quality care to individuals with JS and know when to refer for subspecialty care. This need will only increase as precision treatments targeting specific genetic causes of JS emerge. The goal of these recommendations is to provide a resource for general practitioners, subspecialists, and families to maximize the health of individuals with JS throughout the lifespan.

Publication metadata

Author(s): Bachmann-Gagescu R, Dempsey JC, Bulgheroni S, Chen ML, D'Arrigo S, Glass IA, Heller T, Heon E, Hildebrandt F, Joshi N, Knutzen D, Kroes HY, Mack SH, Nuovo S, Parisi MA, Snow J, Summers AC, Symons JM, Zein WM, Boltshauser E, Sayer JA, Gunay-Aygun M, Valente EM, Doherty D

Publication type: Review

Publication status: Published

Journal: American Journal of Medical Genetics, Part A

Year: 2020

Volume: 182

Issue: 1

Pages: 229-249

Print publication date: 01/01/2020

Online publication date: 11/11/2019

Acceptance date: 09/10/2019

ISSN (print): 1552-4825

ISSN (electronic): 1552-4833

Publisher: Wiley-Liss Inc.


DOI: 10.1002/ajmg.a.61399

PubMed id: 31710777