Familial omphalocele syndrome with facial dysmorphism
Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face short upturned nose long and wide philtrum and flattened maxillary arch and abnormalities of hands.
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 April 2024
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Familial omphalocele syndrome with facial dysmorphism?
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Advocacy Organizations
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Clinical Trials
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