Living with Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
A rare inherited condition with diabetes in newborns and a missing or small pancreas and cerebellum.
Understanding Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Babies have diabetes that needs insulin from the newborn period. The pancreas, the cerebellum (the brain's balance center), or both did not form fully. Signs appear in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Diabetes needing insulin in newborns
- Missing or small pancreas
- Small cerebellum
- Small optic nerves
- Triangular face
- Short chin and low-set ears
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 PTF1A 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 PTF1A gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: pancreatic and cerebellar agenesis
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 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome.
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