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Orofaciodigital syndrome type 6
Disease definition
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.
ORPHA:2754
Classification level: Disorder- Synonym(s):
- 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
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive or X-linked recessive
- Age of onset: Infancy, Neonatal
- ICD-10: Q04.3
- OMIM: 277170 300804 614815 615665 617127 618763
- UMLS: C2745997
- MeSH: -
- GARD: 4412
- MedDRA: -
Summary
Epidemiology
Prevalence is unknown.
Clinical description
Typical oral findings include bifid or lobulated tongue, lingual hamartomas and multiple oral frenulae, but cleft lip and/or palate can also be present. Polydactyly is typically mesaxial with Y-shaped metacarpals, but can also be preaxial or postaxial. A subset of patients present with hypothalamic hamartoma that has never been reported in other JSRD subgroups.
Etiology
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.
Genetic counseling
Males and females are equally affected and an autosomal recessive pattern of inheritance was observed in familial cases.
A summary on this disease is available in Deutsch (2011) Español (2011) Français (2011) Italiano (2011) Nederlands (2011) Português (2011) Greek (2011, pdf) Polski (2011, pdf)
Detailed information
Guidelines
- Clinical practice guidelines
- Français (2021) - PNDS
- Anesthesia guidelines
- Czech (2019) - Orphananesthesia
- Deutsch (2022) - Orphananesthesia
- English (2022) - Orphananesthesia
- Español (2022) - Orphananesthesia
Disease review articles
- Review article
- English (2010) - Orphanet J Rare Dis
- Clinical genetics review
- English (2017) - GeneReviews
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
Additional information