About: Fryns syndrome

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Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome that is usually lethal in the neonatal period. Fryns (1987) reviewed the syndrome.

Attributes	Values
rdf:type	Thing Disease yago:Abstraction100002137 yago:Attribute100024264 yago:Cognition100023271 yago:Complex105870365 yago:Concept105835747 yago:Condition113920835 yago:Content105809192 yago:Disease114070360 yago:Idea105833840 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 disease yago:State100024720 yago:Syndrome105870790 yago:Whole105869584 yago:WikicatSyndromes
rdfs:label	Fryns-Syndrom (de) Fryns syndrome (en) Syndrome de Fryns (fr) Zespół Frynsa (pl)
rdfs:comment	Das Fryns-Syndrom ist ein seltenes angeborenes Dysmorphie-Syndrom mit einer Kombination von Trübung der Hornhaut, Hypoplasie der unteren Extremitäten und Zwerchfelldefekt. Das Syndrom ist nach dem Erstbeschreiber von 1979 benannt, dem belgischen Humangenetiker Jean-Pierre Fryns. Das Fryns-Syndrom ist nicht mit dem Fryns-Hofkens-Fabry-Syndrom zu verwechseln. (de) Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome that is usually lethal in the neonatal period. Fryns (1987) reviewed the syndrome. (en) Zespół Frynsa (łac. syndroma Fryns ang. Fryns syndrome, FRNS) – genetycznie uwarunkowany zespół wad wrodzonych charakteryzujący się dysmorfią twarzy, wrodzoną przepukliną przeponową, hipoplazją płuc i kończyn oraz niepełnosprawnością intelektualną. (pl) Le syndrome de Fryns est une maladie associant une hernie diaphragmatique, un visage particulier et des anomalies des doigts. La plupart des enfants décèdent à la naissance, en raison de la hernie diaphragmatique.Ce syndrome serait responsable de 10 % des hernies diaphragmatiques congénitales et donc la cause syndromique la plus fréquente des hernies diaphragmatiques congénitales. Les critères diagnostics de ce syndrome sont les suivants : (fr)
foaf:depiction
dcterms:subject	Syndromes affecting the respiratory system Rare syndromes Syndromes affecting the nervous system
Wikipage page ID	26423633 (xsd:integer)
Wikipage revision ID	1109620590 (xsd:integer)
Link from a Wikipage to another Wikipage	Pulmonary hypoplasia Scoliosis Mosaicism Death Decortication Developmental delay Aortic arch Hydrocephalus Phalanx bone Retina Cystic hygroma Urinary tract Uterus dbr:Valproate Cardiovascular Dysmorphic syndrome Dysplasia Incisor Infant respiratory distress syndrome Cryptorchidism Sacrum Genetic counseling Pallister–Killian syndrome Cleft palate Gastroschisis Gene Gliosis Brain Myoclonus Consanguinity Cornea Thoracic duct Renal cyst Optic tract Osteochondrodysplasia Aorta Magnetic resonance imaging Choanal atresia Stillbirth Clavicle Cleft lip and palate Congenital anomaly Macrocephaly Micrognathism Autosomal recessive Syndromes affecting the respiratory system Agenesis Agenesis of the corpus callosum Micropenis Dandy–Walker syndrome Duodenal atresia External genitalia Extracorporeal membrane oxygenation Central nervous system Central sulcus Chylothorax Diagnosis Isochromosome Thoracic diaphragm Vasodilation Rib Rare syndromes Syndromes affecting the nervous system Atrophy Hypoplasia

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