Overview
Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome is an extremely rare condition that affects multiple organs in the body from birth. It is sometimes referred to by its Orphanet code ORPHA:79118. Babies born with this syndrome have problems with several important body systems all at once, including the pancreas, thyroid gland, eyes, liver, and kidneys. The pancreas does not make enough insulin, causing a type of diabetes that appears in the first weeks of life (neonatal diabetes). The thyroid gland, which controls growth and metabolism, is underactive from birth (congenital hypothyroidism). The eyes have increased pressure due to a drainage problem (congenital glaucoma), which can damage vision. The liver develops scar tissue over time (hepatic fibrosis), and the kidneys contain fluid-filled cysts (polycystic kidneys) that can affect how well they work. Because so many organs are involved, babies need care from many different specialists right away. Treatment focuses on managing each problem separately — insulin for diabetes, thyroid hormone replacement, eye surgery or drops for glaucoma, and monitoring of liver and kidney function. There is no cure, but early treatment can help reduce complications and improve quality of life.
Key symptoms:
High blood sugar from birth (neonatal diabetes)Slow growth and low energy due to underactive thyroidIncreased eye pressure causing glaucomaVision problems or cloudy eyesEnlarged or firm liver due to scarringCysts on the kidneysPoor kidney function over timeJaundice (yellowing of skin or eyes) in newbornsFailure to thrive or poor weight gainSwollen abdomen
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 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys 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
No travel grants are currently matched to Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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 we do to find the cause of this syndrome in our child?,How do we best coordinate care between all the different specialists our child needs?,What are the warning signs that the liver or kidneys are getting worse, and when should we go to the emergency room?,How will glaucoma be treated and what is the risk of vision loss for our child?,Are there any clinical trials or research studies we should know about for this condition?,What support services or rare disease networks can help our family?,What is the long-term outlook for our child, and what milestones should we watch for?
Common questions about Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome
What is Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome?
Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome is an extremely rare condition that affects multiple organs in the body from birth. It is sometimes referred to by its Orphanet code ORPHA:79118. Babies born with this syndrome have problems with several important body systems all at once, including the pancreas, thyroid gland, eyes, liver, and kidneys. The pancreas does not make enough insulin, causing a type of diabetes that appears in the first weeks of life (neonatal diabetes). The thyroid gland, which controls growth and metabolis
How is Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome inherited?
Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome typically begin?
Typical onset of Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome is neonatal. Age of onset can vary across affected individuals.