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Start free with EleplanOrofaciodigital syndrome type 6
ORPHA:2754Clinical subtype
Also called 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
What it is
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) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive, X-linked recessive
- Classified as
- Clinical subtype
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
34- Abnormal oral frenulum morphology
- Ataxia
- Bilateral cryptorchidism
- Biparietal narrowing
- Brachydactyly
- Broad nasal tip
- Cleft palate
- Conductive hearing impairment
- Epicanthus
- Esotropia
- Failure to thrive
- Feeding difficulties in infancy
- Finger clinodactyly
- Frontal bossing
- Gait disturbance
- Generalized hypotonia
- Global developmental delay
- Growth delay
- Hamartoma of tongueDiagnostic criterion
- High palate
- Hypertelorism
- Hypoplasia of olfactory tract
- Hypotonia
- Intellectual disability
- Lobulated tongue
- Long face
- Micrognathia
- Molar tooth sign on MRI
- Nystagmus
- Posteriorly rotated ears
- Preaxial polydactyly
- Short stature
- Syndactyly
- Tongue nodules
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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