Diaphragmatic hernia-short bowel-asplenia syndrome

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Diaphragmatic hernia-short bowel-asplenia syndrome

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia short bowel and asplenia. Dysmorphic facial features include long forehead hypertelorism upturned nares and small mandible. Atresia of the duodenum has also been reported.

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 September 2023.

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