Diaphragmatic hernia-short bowel-asplenia syndrome

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.

Disease data

Classification

Malformation syndrome

ORPHA code

527468

OMIM code

ICD10 code

ICD11 code

*Soruce