orofaciodigital syndrome type 6
Findings
No curated finding names orofaciodigital syndrome type 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.
Definition from the Mondo Disease Ontology (MONDO:0010176), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
73 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Molar tooth sign on MRIHPOHP:0002419
- 12 of 12 reported patients
- Frequent (30% to 79% of cases)
- Preaxial foot polydactylyHPOHP:0001841
- 12 of 12 reported patients
- Abnormal oral frenulum morphologyHPOHP:0000190
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- Bilateral cryptorchidismHPOHP:0008689
- Frequent (30% to 79% of cases)
- Biparietal narrowingHPOHP:0004422
- Frequent (30% to 79% of cases)
Show the remaining 61
- Failure to thriveHPOHP:0001508
- Frequent (30% to 79% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Frequent (30% to 79% of cases)
- Finger clinodactylyHPOHP:0040019
- Frequent (30% to 79% of cases)
- Frontal bossingHPOHP:0002007
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- Generalized hypotoniaHPOHP:0001290
- Frequent (30% to 79% of cases)
Genes
8 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CPLANE1HGNC:25801
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Supportive · Orphanet · Autosomal recessive · 2021
- FAM149B1HGNC:29162
- Supportive · Orphanet · Autosomal recessive · 2021
- KIAA0753HGNC:29110
- Supportive · Orphanet · Autosomal recessive · 2021
- KIF7HGNC:30497
- Supportive · Orphanet · Autosomal recessive · 2021
- OFD1HGNC:2567
Where it sits
Other names
8 names
Resolves to: orofaciodigital syndrome type 6
- Also called
- Joubert syndrome with oral-facial-digital syndromeJoubert syndrome with orofaciodigital defectOFD6oral-facial-digital syndrome type 6orofaciodigital syndrome VIpolydactyly-cleft lip/palate-psychomotor retardation syndromeVaradi syndromeVaradi-Papp syndrome