Parisi et al listed criteria for the diagnosis of classic Joubert Syndrome (JS). The authors are from the University of Washington in Seattle.


Features considered necessary for the clinical diagnosis of classic Joubert Syndrome:

(1) molar tooth sign (MTS) on cranial MRI

(2) hypotonia during infancy

(3) developmental delay or mental retardation (may range from mild to severe)


The molar tooth sign involves 3 components (best seen in horizontal MRI images):

(1) hypoplasia of the midline cerebellar vermis

(2) deepened interpeduncular fossa

(3) elongation of the superior cerebellar peduncles


Supportive finding(s):

(1) irregular breathing during infancy (episodic tachypnea, episodic apnea or both)

(2) abnormal eye movements, such as jerky eye movements, nystagmus, difficulty with smooth visual pursuits, and/or oculomotor apraxia (OMA)


To read more or access our algorithms and calculators, please log in or register.