Healthcare recommendations for Joubert syndrome

Bachmann-Gagescu, Ruxandra; Dempsey, Jennifer C; Bulgheroni, Sara; Chen, Maida L; D'Arrigo, Stefano; Glass, Ian A; Heller, Theo; Héon, Elise; Hildebrandt, Friedhelm; Joshi, Nirmal; Knutzen, Dana; Kroes, Hester Y; Mack, Stephen H; Nuovo, Sara; Parisi, Melissa A; Snow, Joseph; Summers, Angela C; Symons, Jordan M; Zein, Wadih M; Boltshauser, Eugen

doi:10.1002/ajmg.a.61399

Citations

Citation copied

Bachmann-Gagescu, R., Dempsey, J. C., Bulgheroni, S., Chen, M. L., D’Arrigo, S., Glass, I. A., Heller, T., Héon, E., Hildebrandt, F., Joshi, N., Knutzen, D., Kroes, H. Y., Mack, S. H., Nuovo, S., Parisi, M. A., Snow, J., Summers, A. C., Symons, J. M., Zein, W. M., … Doherty, D. (2020). Healthcare recommendations for Joubert syndrome. American Journal of Medical Genetics. Part A, 182(1), 229–249. https://doi.org/10.1002/ajmg.a.61399

Abstract

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