Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
Synonyms: Gershoni-Baruch syndrome
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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Advocacy Organizations
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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