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Fryns syndrome

Orpha number ORPHA2059
Synonym(s) Diaphragmatic hernia - abnormal face - distal limb anomalies
Prevalence Unknown
  • Autosomal recessive
Age of onset Neonatal/infancy
  • Q87.8
  • C0220730
  • C538070
MedDRA -


Fryns syndrome is a multiple congenital anomaly syndrome characterized by diaphragmatic hernia, unusual facies, and distal limb hypoplasia. It was first reported as a lethal condition but 14% of reported patients survive the neonatal period. Characteristics of survivors include a lower incidence of diaphragmatic hernias and milder lung hypoplasia, and absence of complex cardiac malformations and neurologic impairment. Multiple central nervous system abnormalities have been reported in Fryns syndrome, including agenesis of the corpus callosum, Dandy-Walker abnormality, cerebellar heterotopias, cerebellar hypoplasia, enlarged ventricles, and hypoplasia of the olfactory bulbs. About 80 cases have been reported so far. Although difficult, differential diagnosis with Pallister-Killian syndrome is important for genetic counselling because Fryns syndrome is an autosomal recessive disorder and Pallister-Killian syndrome is usually a sporadic chromosomal aberration. Prenatal diagnosis of Fryns syndrome by ultrasonographic detection of diaphragmatic hernia and cystic hygroma is feasible.

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Detailed information

Summary information
Clinical genetics review
  • EN (2010)
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