Patterson-Stevenson-Fontaine syndrome
ORPHA: 2439
Overview
Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Patterson-Stevenson-Fontaine syndrome, sourced from HPO and Orphanet clinical annotations.
Cleft palateMalar flatteningMicrognathiaAbnormal pinna morphologyMacrotiaToe syndactylySplit footMandibulofacial dysostosisHigh palateSensorineural hearing impairmentDental crowdingPreauricular pit
Classification & Codes
Orphanet Code
ORPHA:2439Patterson-Stevenson-Fontaine syndrome
| Orphanet | ORPHA:2439 |
| Treatments | 0 drug(s) |
| Symptoms on record | 12 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO