Overview
Renal-hepatic-pancreatic dysplasia (RHPD) is an extremely rare genetic condition in which the kidneys, liver, and pancreas do not develop properly. The word 'dysplasia' means abnormal growth or development of tissue. In this disease, these three vital organs form cysts (fluid-filled sacs) and have disorganized tissue structure, which prevents them from working correctly. The kidneys may be enlarged with many cysts and cannot filter blood properly. The liver often shows abnormal bile duct development and fibrosis (scarring), and the pancreas may also have cysts and structural problems. This condition is typically detected before birth or shortly after birth. Affected babies often have very underdeveloped kidneys, which can lead to reduced amniotic fluid during pregnancy (called oligohydramnios). Many affected infants are stillborn or die shortly after birth due to severe kidney failure and lung underdevelopment. Some cases also involve other birth defects, such as abnormalities of the bones or other organs. Because this condition is so severe and rare, treatment options are extremely limited. Care is primarily supportive, focusing on managing symptoms and providing comfort. There is currently no cure for renal-hepatic-pancreatic dysplasia. Genetic counseling is strongly recommended for affected families to understand the risk of recurrence in future pregnancies.
Also known as:
Key symptoms:
Enlarged kidneys with many cystsLiver fibrosis or scarringAbnormal bile ducts in the liverCysts in the pancreasLow amniotic fluid during pregnancyUnderdeveloped lungsKidney failure at or before birthAbnormal facial features related to low amniotic fluidFailure to thriveSkeletal abnormalities in some casesEnlarged abdomen due to large kidneysAbsent or very low urine output
Clinical phenotype terms (34)— 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 Renal-hepatic-pancreatic dysplasia.
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Specialists
View all specialists →No specialists are currently listed for Renal-hepatic-pancreatic dysplasia.
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 Renal-hepatic-pancreatic dysplasia.
Community
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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 specific genetic mutation was found, and what does it mean for our family?,What is the chance this could happen again in a future pregnancy?,Is prenatal genetic testing available for future pregnancies?,Can you refer us to a genetic counselor who specializes in this type of condition?,What palliative care and support services are available for our family?,Are there any research studies or registries we can participate in?,Should other family members be tested to see if they are carriers?
Common questions about Renal-hepatic-pancreatic dysplasia
What is Renal-hepatic-pancreatic dysplasia?
Renal-hepatic-pancreatic dysplasia (RHPD) is an extremely rare genetic condition in which the kidneys, liver, and pancreas do not develop properly. The word 'dysplasia' means abnormal growth or development of tissue. In this disease, these three vital organs form cysts (fluid-filled sacs) and have disorganized tissue structure, which prevents them from working correctly. The kidneys may be enlarged with many cysts and cannot filter blood properly. The liver often shows abnormal bile duct development and fibrosis (scarring), and the pancreas may also have cysts and structural problems. This co
How is Renal-hepatic-pancreatic dysplasia inherited?
Renal-hepatic-pancreatic dysplasia follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Renal-hepatic-pancreatic dysplasia typically begin?
Typical onset of Renal-hepatic-pancreatic dysplasia is neonatal. Age of onset can vary across affected individuals.