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Fryns syndrome

Synonym(s) Diaphragmatic hernia - abnormal face - distal limb anomalies
Prevalence Unknown
Inheritance Autosomal recessive
Age of onset Neonatal
  • Q87.8
  • C0220730
  • C538070
MedDRA -


Fryns syndrome is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia (CDH; see this term), small thorax with widely, spaced hypoplastic nipples, pulmonary hypoplasia, and distal limb hypoplasia in addition to a variable expression of additional anomalies.

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Detailed information

Summary information
Clinical genetics review
  • EN (2010)
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