Overview
Permanent neonatal diabetes mellitus with pancreatic and cerebellar agenesis syndrome is an extremely rare condition present from birth. It is also sometimes called PTF1A-related neonatal diabetes or pancreatic-cerebellar agenesis syndrome. In this condition, two major organs fail to develop properly before birth: the pancreas (the organ that makes insulin to control blood sugar) and the cerebellum (the part of the brain that helps control movement and balance). Because the pancreas is absent or severely underdeveloped, babies cannot make insulin at all. This causes permanent diabetes starting in the first weeks of life, meaning blood sugar levels are dangerously high without treatment. At the same time, the missing or very small cerebellum leads to serious problems with movement, muscle tone, and coordination. Babies with this syndrome typically have very low muscle tone (called hypotonia), difficulty feeding, and significant developmental delays. The condition is caused by changes in a gene called PTF1A, which is essential for the normal development of both the pancreas and the cerebellum during pregnancy. Treatment focuses on controlling blood sugar with insulin and providing supportive therapies for neurological symptoms. There is currently no cure.
Also known as:
Key symptoms:
Diabetes starting in the first weeks of life (permanent neonatal diabetes)Very high blood sugar levels from birthAbsent or very small pancreasAbsent or very small cerebellum (part of the brain)Very low muscle tone (floppy baby)Difficulty feeding in the newborn periodSevere developmental delaysPoor coordination and balance problemsSeizures in some casesFailure to thrive or poor weight gainAbnormal eye movements in some cases
Clinical phenotype terms (7)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome.
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Specialists
View all specialists →No specialists are currently listed for Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What genetic testing should be done, and should we test the regulatory regions of the PTF1A gene as well as the coding sequence?,What type of insulin therapy is best for my baby, and how do we manage blood sugar safely at home?,What therapies (physical, occupational, speech) should we start, and how soon?,What are the signs of a blood sugar emergency, and what should we do if one happens?,Are there any clinical trials or research studies we should know about?,What support services are available for our family, including respite care and psychological support?,What should we expect in terms of my child's development and long-term care needs?
Common questions about Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
What is Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome?
Permanent neonatal diabetes mellitus with pancreatic and cerebellar agenesis syndrome is an extremely rare condition present from birth. It is also sometimes called PTF1A-related neonatal diabetes or pancreatic-cerebellar agenesis syndrome. In this condition, two major organs fail to develop properly before birth: the pancreas (the organ that makes insulin to control blood sugar) and the cerebellum (the part of the brain that helps control movement and balance). Because the pancreas is absent or severely underdeveloped, babies cannot make insulin at all. This causes permanent diabetes starting
How is Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome inherited?
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome typically begin?
Typical onset of Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is neonatal. Age of onset can vary across affected individuals.