orofaciodigital syndrome type II
Findings
No curated finding names orofaciodigital syndrome type II yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas.
Definition from the Mondo Disease Ontology (MONDO:0009642), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
66 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.
- Cleft palateHPOHP:0000175
- Occasional (5% to 29% of cases)
- Very frequent (80% to 99% of cases)
- Abnormal oral frenulum morphologyHPOHP:0000190
- Frequent (30% to 79% of cases)
- Accessory oral frenulumHPOHP:0000191
- Frequent (30% to 79% of cases)
- Agenesis of central incisorHPOHP:0006289
- Occasional (5% to 29% of cases)
- Frequent (30% to 79% of cases)
- Bifid nasal tipHPOHP:0000456
- Frequent (30% to 79% of cases)
- Bifid tongueHPOHP:0010297
- Frequent (30% to 79% of cases)
Show the remaining 54
- Conductive hearing impairmentHPOHP:0000405
- Frequent (30% to 79% of cases)
- Occasional (5% to 29% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Frequent (30% to 79% of cases)
- Finger clinodactylyHPOHP:0040019
- Frequent (30% to 79% of cases)
- Finger syndactylyHPOHP:0006101
- Frequent (30% to 79% of cases)
- Flared metaphysisHPOHP:0003015
- Frequent (30% to 79% of cases)
- Hamartoma of tongueHPOHP:0011802
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.
- NEK1HGNC:7744
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: orofaciodigital syndrome type II
- Also called
- MOHR syndromeOFD2oral-facial-digital syndrome type 2