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Joubert syndrome with orofaciodigital defect

Orpha number ORPHA2754
Synonym(s) Joubert syndrome with oral-facial-digital syndrome
OFD6
Oral-facial-digital syndrome type 6
Orofaciodigital syndrome type 6
Polydactyly - cleft lip/palate - psychomotor retardation
Váradi syndrome
Váradi-Papp syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
X-linked recessive
Age of onset Infancy
Neonatal
ICD-10
  • Q04.3
  • Q87.0
ICD-O -
OMIM
UMLS
  • C2745997
MeSH -
MedDRA -
SNOMED CT -

Summary

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.

Prevalence is unknown.

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.

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.

Males and females are equally affected and an autosomal recessive pattern of inheritance was observed in familial cases.

Expert reviewer(s)

  • Dr Francesco BRANCATI
  • Pr Bruno DALLAPICCOLA
  • Pr Enza Maria VALENTE

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Detailed information

Summary information
Review article
  • EN (2010)
Practical genetics
  • EN (2007,pdf)
Guidance for genetic testing
  • EN (2013,pdf)
Clinical genetics review
  • EN (2013)
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