Oral-Facial-Digital (OFD) Syndrome Type VI is a rare phenotypic subtype of Joubert Syndrome. Poretti et al reported criteria for the diagnosis. The authors are from University Children's Hospital of Zurich and IRCCS Casa SollievodellaSofferenza Institute.
Criteria - both of the following:
(1) molar tooth sign (MTS, an MRI finding in the brain associated with Joubert Syndrome)
(2) one or more of the following:
(2a) tongue hamartoma
(2b) additional frenula
(2c) upper lip notch
(2d) meosaxial polydactyly in hand or foot
(2e) hypothalamic hamartoma
Additional clinical features:
(1) absent motor development
(2) profound cognitive impairment
(3) brain abnormalities: severe hypoplasia of the cerebellar vermis, hypoplastic and dysplastic cerebellar hemispheres, marked enlargement of the posterior fossa, abnormal brainstem, fused thalami and ascending superior cerebellar peduncles
