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Joubert syndrome with orofaciodigital defect
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.
- Joubert syndrome with oral-facial-digital syndrome
- 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
- UMLS: C2745997
- MeSH: -
- GARD: 4412
- MedDRA: -
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.