Living with Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
A rare genetic condition of the digestive system with an underdeveloped pancreas, blocked intestine, and a small or missing gallbladder.
Understanding Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
It can cause neonatal diabetes and a pancreas that is underdeveloped or oddly shaped. Parts of the small intestine can be blocked or missing, the gallbladder can be missing or small, and the intestines may be in an unusual position. This can lead to malnutrition and slow growth. Yellowing of the skin and eyes, pale stools, and infections can occur. It is seen in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Newborn diabetes
- Blocked or missing parts of the small intestine
- Small or missing gallbladder
- Pancreas that is small or oddly shaped
- Slowed bile flow (cholestasis)
- Intestines in an unusual position
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 digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in RFX6 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
- Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- 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 RFX6 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia; mitchell-riley 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
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