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Patterson-Stevenson-Fontaine syndrome

Disease definition

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


Classification level: Disorder
  • Synonym(s):
    • Patterson-Stevenson syndrome
    • Split foot deformity-mandibulofacial dysostosis syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.0
  • OMIM: 183700
  • UMLS: C1866741  C3489790
  • MeSH: -
  • GARD: 4260
  • MedDRA: -

Additional information

Further information on this disease

Specialised Social Services

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