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  • A very rare subtype of Joubert syndrome and related disorders with characteristics of neurological features of Joubert syndrome associated with orofacial anomalies and often polydactyly. Prevalence is unknown. Typical oral findings include bifid or lobulated tongue, lingual hamartomas and multiple oral frenula, but cleft lip and/or palate can also be present. Two OFD6 patients, including one fetus, were found to carry a homozygous mutation in the TMEM216 gene (11q13.1), but mutations in this gene were excluded in several other patients and the genetic basis of this condition still remains elusive.
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