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Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome

MedGen UID:
976517
Concept ID:
CN294762
Disease or Syndrome
Synonyms: Gershoni-Baruch syndrome; omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
 
Monarch Initiative: MONDO:0044649
Orphanet: ORPHA496693

Definition

A rare multiple congenital anomalies/dysmorphic syndrome characterized by a large omphalocele containing liver and small intestine, diaphragmatic hernia, cardiovascular anomalies (e. g. aortic coarctation), variable limb malformations (including radioulnar synostosis, agenesis of the radius and/or thumb, generalized syndactyly, and numerical reduction of toes), and dysmorphic facial features. Additional reported manifestations are unilateral absence of umbilical artery, intestinal malrotation, hypoplastic ovaries, and unilateral renal agenesis, among others. The condition is mostly fatal in the neonatal period. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOmphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome

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