/pancreatic hypoplasia-diabetes-congenital heart disease syndrome

pancreatic hypoplasia-diabetes-congenital heart disease syndrome

Rare Disease

MONDO:0010802

Also Known As

Yorifuji-Okuno syndromepancreatic hypoplasia-diabetes-congenital heart disease syndromeHDCAYorifuji Okuno syndromecongenital pancreatic hypoplasia with diabetes mellitus and congenital heart diseaseheart defects, congenital, and other congenital anomalieshereditary pancreatic hypoplasia, diabetes mellitus and congenital heart diseasepancreatic agenesis and congenital heart defectspancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease

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).