Patterson-Stevenson-Fontaine syndrome
MONDO:0008465Mondo
Findings
No curated finding names Patterson-Stevenson-Fontaine syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies.
Definition from the Mondo Disease Ontology (MONDO:0008465), read 2026-09-29. CC BY 4.0.
Features
12 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.
- Abnormal pinna morphologyHPOHP:0000377
- Frequent (30% to 79% of cases)
- Cleft palateHPOHP:0000175
- Frequent (30% to 79% of cases)
- MacrotiaHPOHP:0000400
- Frequent (30% to 79% of cases)
- Malar flatteningHPOHP:0000272
- Frequent (30% to 79% of cases)
- Mandibulofacial dysostosisHPOHP:0005321
- Frequent (30% to 79% of cases)
- MicrognathiaHPOHP:0000347
- Frequent (30% to 79% of cases)
- Split footHPOHP:0001839
- Frequent (30% to 79% of cases)
- Toe syndactylyHPOHP:0001770
- Frequent (30% to 79% of cases)
- Dental crowdingHPOHP:0000678
- Occasional (5% to 29% of cases)
- High palateHPOHP:0000218
- Occasional (5% to 29% of cases)
- Preauricular pitHPOHP:0004467
- Occasional (5% to 29% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
2 names
Resolves to: Patterson-Stevenson-Fontaine syndrome
- Also called
- Patterson-Stevenson syndromesplit foot deformity-mandibulofacial dysostosis syndrome