Yorifuji Okuno syndrome

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

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).

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

Visit the Orphanet disease page for more resources.

Last updated: 10/1/2006

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If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.