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

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