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Pancreatic hypoplasia-diabetes-congenital heart disease syndrome

Synonym(s) Yorifuji-Okuno syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
or Autosomal recessive
Age of onset All ages
  • Q87.8
  • C2931296
MeSH -
MedDRA -


Disease definition

Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is 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).


It has been described in one Japanese family, in which the mother and at least two of her four children were affected (another two children died shortly after birth).

Genetic counseling

The syndrome appears to be inherited as an autosomal dominant trait.

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