diaphragmatic hernia-short bowel-asplenia syndrome
MONDO:0035105Mondo
Findings
No curated finding names diaphragmatic hernia-short bowel-asplenia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0035105), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of