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 October 2024
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Diaphragmatic hernia-short bowel-asplenia syndrome?
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Advocacy Organizations
Help Hope Live
Help Hope Live supports community-based fundraising for people with unmet medical expenses and related costs due to cell and organ transplants or catastrophic injuries and illnesses. These efforts play a critical role in helping clients access the care and equipment they need to heal, live, and thrive. Unlock a powerful and safe way to raise funds for medical needs with Help Hope Live. They provide one-on-one fundraising guidance, a customizable Campaign Page, bill pay support, and additional benefits based on their 501(c)(3) nonprofit status.
Syndromes Without A Name (SWAN) Australia
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Clinical Trials
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