orofaciodigital syndrome
Findings
No curated finding names orofaciodigital syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.
Definition from the Mondo Disease Ontology (MONDO:0015375), read 2026-09-29. CC BY 4.0.
Features
1 feature
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, hp/releases/2026-09-01.
- Polycystic kidney dysplasiaMondoHP:0000113
Genes
3 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.
Where it sits
- Narrower terms (19)
- orofaciodigital syndrome 16
- orofaciodigital syndrome 17
- orofaciodigital syndrome 18
- orofaciodigital syndrome 19
- orofaciodigital syndrome 20
- orofaciodigital syndrome 21
- orofaciodigital syndrome III
- orofaciodigital syndrome IV
- orofaciodigital syndrome IX
- orofaciodigital syndrome type 12
- orofaciodigital syndrome type 14
- orofaciodigital syndrome type 6
- orofaciodigital syndrome type II
- orofaciodigital syndrome V
- orofaciodigital syndrome VII
- orofaciodigital syndrome VIII
- orofaciodigital syndrome X
- orofaciodigital syndrome XI
- orofaciodigital syndrome XV
Other names
2 names
Resolves to: orofaciodigital syndrome
- Also called
- OFDOral-Facial-Digital Syndrome