Living with Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
A rare genetic condition with a small pancreas, diabetes, and heart differences present from birth.
Understanding Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Part of the pancreas didn't form, which leads to diabetes and trouble digesting food. Heart differences are also present, such as holes in the heart walls. GARD lists the onset as any time in life, and many babies are small for their age and have feeding trouble.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Underdeveloped or missing pancreas
- Diabetes needing insulin in newborns
- Hole between the heart's upper chambers (atrial septal defect)
- Hole between the heart's lower chambers (ventricular septal defect)
- Trouble digesting food (exocrine pancreatic insufficiency)
- Poor growth and feeding difficulties
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in GATA6 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the GATA6 gene cause this condition. It is autosomal dominant, which means one changed copy of the gene is enough to cause it.
Also known as: heart defects, congenital, and other congenital anomalies; pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease; pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome; yorifuji okuno syndrome; yorifuji-okuno syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Pancreatic hypoplasia-diabetes-congenital heart disease syndrome.
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