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Joubert syndrome with orofaciodigital defect

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

  • 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 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
  • UMLS: C2745997
  • MeSH: -
  • GARD: 4412
  • MedDRA: -

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