Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Definition
A rare, syndromic diabetes mellitus characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).
Also known as pancreatic hypoplasia-diabetes-congenital heart disease syndrome, Yorifuji-Okuno syndrome — per MONDO