orofaciodigital syndrome XI
Findings
No curated finding names orofaciodigital syndrome XI yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects.
Definition from the Mondo Disease Ontology (MONDO:0013035), read 2026-09-29. CC BY 4.0.
Features
9 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.
- Bulbous noseHPOHP:0000414
- 1 of 1 reported patient
- Cleft palateHPOHP:0000175
- 1 of 1 reported patient
- Downslanted palpebral fissuresHPOHP:0000494
- 1 of 1 reported patient
- Gastroesophageal refluxHPOHP:0002020
- 1 of 1 reported patient
- Hypoplasia of the odontoid processHPOHP:0003311
- 1 of 1 reported patient
- Postaxial polydactylyHPOHP:0100259
- 1 of 1 reported patient · Congenital onset
- SeizureHPO
Where it sits
- A kind of
Other names
5 names
Resolves to: orofaciodigital syndrome XI
- Also called
- OFD11oral-facial-digital syndrome type 11oral-facial-digital syndrome, Gabrielli typeorofaciodigital syndrome type XIorofaciodigital syndrome, Gabrielli type