Orofaciodigital syndrome type 6

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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.

Reference: Access aggregated data from Orphanet at Orphadata.

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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Advocacy Organizations

Genetic Support Network of Victoria

The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.

National Ataxia Foundation

The National Ataxia Foundation (NAF) was established in 1957 to help persons with Ataxia and their families. Our mission is to accelerate the development of treatments and a cure while working to improve the lives of those living with Ataxia. NAF’s vision of a world without Ataxia will be accomplished through our primary programs of funding Ataxia research, providing vital programs and services fo

Clinical Trials

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