Orofaciodigital syndrome type 6
Synonyms: Joubert syndrome with oral-facial-digital syndrome | Joubert syndrome with orofaciodigital defect | OFD6 | Oral-facial-digital syndrome type 6 | Polydactyly-cleft lip/palate-psychomotor retardation syndrome | Váradi syndrome | Váradi-Papp syndrome
Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6 OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024
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Orofaciodigital syndrome type 6?
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