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Fryns syndrome

Disease definition

Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations.

ORPHA:2059

  • Synonym(s):
    • Diaphragmatic hernia-abnormal face-distal limb anomalies syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal, Neonatal, Infancy
  • ICD-10: Q87.8
  • OMIM: 229850
  • UMLS: C0220730
  • MeSH: C538070
  • GARD: 3699
  • MedDRA: -

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