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Fraser syndrome
Relevant markers:
AkinesiaAscitesBilateral hypoplasia/atrophy of cerebellumBroad nasal bridgeCamptodactylyClubhandCongenital high airway obstruction syndrome (CHAOS)CryptophtalmosEverted/flat diaphragmFacial dysmorphismGastroschisisGenu recurvatum of kneeHydropsHypertelorismHypokinesiaHypoplastic kidneysHypoplastic lung/sHypoplastic thoracic cageHypospadias/tulip signLow set ear/sMicrognathia/retrognathiaMulticystic dysplastic kidney/sNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaOligohydramniosPolyhydramniosScalp edemaShort neckSmall/collapsed/absent stomachTalipesUlnar deviationUnilateral hypoplasia/atrophy of cerebellumCephaloceleParents markers:Cleft in hard palateCleft lipContractures/arthrogryposisEarsEchogenic lung/sEyesGenitalsHeartIntrauterine growth retardation (IUGR/SGA/FGR)MegacystisMicrocephalyMicrophthalmiaNeural tube defectNoseObstructive utopathyPyelectasis/hydronephrosisRenal agenesisScoliosisSyndactyly of fingersSyndactyly of toesVentriculomegaly
Incidence: - — 4/1000000 Involved genes:
(gene — definition — chromosome)5q35, 9p21?q21, 11p15.5, FRAS1 — 4q21.21, FREM2 — 13q13.3 Inheritance mode: AD, AR Other online databases: OrphaNet, OMIM, Geneva Foundation, Jablonski's Database References: 2011 Genet Couns Case Series Read on PubMed 2016 Congenit Anom (Kyoto) Case report Read on PubMed 2016 Prenat Diagn Review of 38 cases Read on PubMed Login for more details.