orofaciodigital syndrome I
Findings
No curated finding names orofaciodigital syndrome I yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.
Definition from the Mondo Disease Ontology (MONDO:0010702), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
78 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.
- Abnormality of the faceHPOHP:0000271
- Very frequent (80% to 99% of cases)
- Accessory oral frenulumHPOHP:0000191
- Very frequent (80% to 99% of cases)
- Broad alveolar ridgesHPOHP:0000187
- Very frequent (80% to 99% of cases)
- Frontal bossingHPOHP:0002007
- Very frequent (80% to 99% of cases)
- High palateHPOHP:0000218
- 1 of 7 reported patients
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
Show the remaining 66
- Abnormality of the dentitionHPOHP:0000164
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Frequent (30% to 79% of cases)
- Cone-shaped epiphysisHPOHP:0010579
- Frequent (30% to 79% of cases)
- Deviation of fingerHPOHP:0004097
- Frequent (30% to 79% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- 1 of 6 reported patients
Genes
1 gene
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.
- OFD1HGNC:2567
- Definitive · G2P · X-linked · 2023
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
17 names
Resolves to: orofaciodigital syndrome I
- Also called
- OFD syndrome 1OFD1OFDIOFDS 1OFDSIoral facial digital syndrome 1oral facial digital syndrome type 1oral-facial-digital syndrome 1oral-facial-digital syndrome type 1oral-facial-digital syndrome, type 1orofaciodigital syndrome 1orofaciodigital syndrome i, X-linked dominantorofaciodigital syndrome type 1orofaciodigital syndrome type IPapillon-Leage and Psaume syndromePapillon-Léage-Psaume syndrome