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Patterson-Stevenson-Fontaine syndrome

ORPHA:2439· ICD-10 Q87.0

Definition

Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal dominant
Age of onset
Antenatal, Neonatal