Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

Fryns syndrome

Orpha number ORPHA2059
Synonym(s) Diaphragmatic hernia - abnormal face - distal limb anomalies
Prevalence Unknown
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • Q87.8
OMIM
UMLS
  • C0220730
MeSH
  • C538070
MedDRA -
SNOMED CT -

Summary

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.


(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image

Detailed information

Summary information
Clinical genetics review
  • EN (2010)
Get Acrobat Reader
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.