The Center for Cerebellar Malformations
Conditions Related to Joubert Syndrome
All of the syndromes listed below involve the Molar
Tooth Malformation (MTM)-a characteristic of JS seen on MRI scans. The MTM is a malformation of the
cerebellar vermis and brain stem (see Call for
Patients for an MRI Image.)
Other syndromes related to
JS:
v
JS with retinal (eye) involvement
v
JS with Dandy-Walker
Malformation
v
JS with
polymicrogyria (very wrinkled brain)
This condition is also called Type III JS
v
JS with polydactyly
and retinal (eye) involvement
v
Dekaban-Arima
Syndrome-MTM with retinal (eye) and
cystic dysplasic kidney involvement and occasional liver fibrosis and
polymicrogyria (very wrinkled brain) involvement
This condition is also called CORS or Type II JS or JS
Type B
v
COACH-MTM with coloboma (eye involvement) and liver fibrosis
v
Gentile-MTM with liver fibrosis
v
Senior-Loken-MTM with retinal (eye) involvement and kidney
nephronophthesis
v
Malta-MTM with coloboma (eye involvement), occipital
encephalocele (hole in the skull) and cystic dysplasic kidney involvement
v Varadi-Papp-MTM
with tongue tumors and polydactyly accompanied by occasional coloboma (eye
involvement) and hypothalamic hamartomas (a central nervous system disorder)
This condition is also called Oro-Facial-Digital
syndrome Type VI or OFD Type VI
v Treating Patients
with Joubert Syndrome
v Letter to Healthcare
Providers