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Fryns syndrome
Relevant markers:
Broad nasal bridgeClouded corneaCongenital diaphragmatic hernia (CDH)Distal limbs anomaliesFlat nasal bridgeHydropsHypertelorismHypoplasia of distal phalanx of finger/sHypoplastic thoracic cageLow set ear/sMacrosomiaMega cisterna magnaMicrognathia/retrognathiaMulticystic dysplastic kidney/sNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaOmphalocelePolyhydramniosThin upper lipUnilateral hypoplasia/atrophy of cerebellumNormal growth (AGA)Parents markers:Agenesis of corpus callosum (ACC)BrainCleft in hard palateCleft lipGastrointestinalGenitourinaryHeartKyphosisMicrophthalmiaMouth sizeToesVentriculomegaly
Incidence: - — 7/100000 Other online databases: OMIM References: 2014 Prenat Diagn 5 cases and review of literature Read on PubMed Login for more details.