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Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies.
Features include: Cleft palate, Toe syndactyly, Mandibulofacial dysostosis, and Malar flattening and 4 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Arms and legs | 3 | Toe syndactyly, Split foot, Split hand |
Head and neck |
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Patterson-Stevenson-Fontaine syndrome.
2 publications have been identified in PubMed for Patterson-Stevenson-Fontaine syndrome. Research spans Case Report / Case Series (100%).
Raza S (2025). [PMID: 41013550](https://pubmed.ncbi.nlm.nih.gov/41013550/). *J Med Case Rep*. [Case Report / Case Series]
Zepeda-Olmos PM (2024). [PMID: 39273297](https://pubmed.ncbi.nlm.nih.gov/39273297/). *Int J Mol Sci*. [Case Report / Case Series]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:57 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Patterson-Stevenson-Fontaine syndrome
2
Cleft palate, Mandibulofacial dysostosis |
Ears | 1 | Abnormality of the ear |