Overview
Dincsoy-Salih-Patel syndrome is an extremely rare condition that was first described in the medical literature in a small number of affected individuals. This syndrome primarily affects the liver and is characterized by severe liver disease that presents very early in life, typically in the newborn period. Affected babies may develop a condition called hepatic fibrosis, where the liver becomes scarred and does not function properly. The syndrome may also involve abnormalities in the development of the bile ducts, which are the small tubes that carry bile from the liver to the intestine. Because bile cannot flow properly, babies may develop jaundice (yellowing of the skin and eyes), an enlarged liver, and problems with growth and nutrition. Because this condition is so rare, with only a handful of cases reported in the medical literature, our understanding of the full range of symptoms and the best approaches to treatment remains limited. Management is generally supportive, focusing on treating liver complications and ensuring adequate nutrition. In severe cases, liver transplantation may be considered. Families affected by this condition should work closely with specialists in pediatric liver disease and clinical genetics to guide care and monitoring. The syndrome is also sometimes referred to by its Orphanet designation (ORPHA:1678) and may appear under different names in older medical literature.
Key symptoms:
Yellowing of the skin and eyes (jaundice)Enlarged liverLiver scarring (fibrosis)Problems with bile duct developmentPoor weight gain and growthDifficulty feedingDark urinePale or clay-colored stoolsSwollen abdomenLiver failure
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 Dincsoy-Salih-Patel syndrome.
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Specialists
View all specialists →No specialists are currently listed for Dincsoy-Salih-Patel 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 Dincsoy-Salih-Patel syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
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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 is the current state of my child's liver function?,Are there genetic tests that could help identify the exact cause?,What signs of worsening should I watch for at home?,Will my child need a liver transplant, and when would that be considered?,What nutritional support does my child need?,Is there a risk that future children could be affected?,Are there any research studies or registries we should consider joining?
Common questions about Dincsoy-Salih-Patel syndrome
What is Dincsoy-Salih-Patel syndrome?
Dincsoy-Salih-Patel syndrome is an extremely rare condition that was first described in the medical literature in a small number of affected individuals. This syndrome primarily affects the liver and is characterized by severe liver disease that presents very early in life, typically in the newborn period. Affected babies may develop a condition called hepatic fibrosis, where the liver becomes scarred and does not function properly. The syndrome may also involve abnormalities in the development of the bile ducts, which are the small tubes that carry bile from the liver to the intestine. Becaus
How is Dincsoy-Salih-Patel syndrome inherited?
Dincsoy-Salih-Patel syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Dincsoy-Salih-Patel syndrome typically begin?
Typical onset of Dincsoy-Salih-Patel syndrome is neonatal. Age of onset can vary across affected individuals.