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

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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 July 2024

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

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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