Living with Pancreatic agenesis-holoprosencephaly syndrome
A rare genetic condition with a missing pancreas, a brain that did not fully divide, and diabetes starting in the newborn period.
Understanding Pancreatic agenesis-holoprosencephaly syndrome
The pancreas did not form, and the brain did not fully divide into two halves (holoprosencephaly). Diabetes that needs insulin and trouble digesting food begin soon after birth. Some children also have slow growth before birth, muscle weakness, seizures, mild intellectual disability, and a missing gallbladder.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Missing pancreas (pancreatic aplasia)
- Brain that did not fully divide (holoprosencephaly)
- Diabetes needing insulin in newborns
- Missing gallbladder
- Missing link between brain halves (corpus callosum)
- Slow growth before birth
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, digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in CNOT1 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); 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 CNOT1 gene cause this condition. It is autosomal dominant, which means one changed copy of the gene is enough to cause it.
Also known as: pancreatic agenesis, holoprosencephaly 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 agenesis-holoprosencephaly syndrome.
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