Overview
Syndromic biliary atresia is a rare liver condition that is present from birth. In this disease, the bile ducts — the small tubes that carry bile (a digestive fluid) from the liver to the intestine — are either missing, blocked, or severely damaged. Unlike the more common isolated form of biliary atresia, the 'syndromic' type occurs alongside other birth defects in the body, such as heart problems, abnormal positioning of organs (like the spleen or intestines), or other structural differences. This combination of features suggests that the condition arises early in fetal development and may have a genetic cause. When bile cannot flow properly, it builds up inside the liver and causes serious damage over time. This leads to a condition called cholestasis (bile buildup), which causes yellowing of the skin and eyes (jaundice), pale or clay-colored stools, and dark urine in newborns. Without treatment, the liver becomes scarred (cirrhosis) and eventually fails. The main treatment is a surgery called the Kasai procedure (hepatoportoenterostomy), which tries to restore bile flow. Many children still need a liver transplant later in life. Early diagnosis and treatment are critical to giving children the best possible outcome. Research into the genetic causes of syndromic biliary atresia is ongoing, and understanding the underlying genes may open doors to better treatments in the future.
Key symptoms:
Yellowing of the skin and whites of the eyes (jaundice) in the newborn periodPale, white, or clay-colored stoolsDark yellow or brown urineSwollen or enlarged belly due to liver or spleen enlargementPoor weight gain and slow growthItchy skin from bile buildupFatigue and low energyHeart defects (present in some children)Organs on the wrong side of the body (situs inversus or polysplenia)Abnormal number or position of the spleenIntestinal malrotation (bowel in an unusual position)Easy bruising or bleeding due to poor liver functionFluid buildup in the belly (ascites) in advanced disease
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Syndromic biliary atresia.
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Specialists
View all specialists →No specialists are currently listed for Syndromic biliary atresia.
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 Syndromic biliary atresia.
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.Is my child a candidate for the Kasai procedure, and how soon should it be done?,What genetic testing do you recommend to find the cause of my child's condition?,What other organ problems should we be looking for given the syndromic diagnosis?,What are the signs that my child's liver is getting worse, and when should I go to the emergency room?,At what point would you recommend a liver transplant, and how do we get on a transplant list?,What nutritional support does my child need, and should we see a dietitian?,Are there any clinical trials or research studies we should consider?
Common questions about Syndromic biliary atresia
What is Syndromic biliary atresia?
Syndromic biliary atresia is a rare liver condition that is present from birth. In this disease, the bile ducts — the small tubes that carry bile (a digestive fluid) from the liver to the intestine — are either missing, blocked, or severely damaged. Unlike the more common isolated form of biliary atresia, the 'syndromic' type occurs alongside other birth defects in the body, such as heart problems, abnormal positioning of organs (like the spleen or intestines), or other structural differences. This combination of features suggests that the condition arises early in fetal development and may ha
At what age does Syndromic biliary atresia typically begin?
Typical onset of Syndromic biliary atresia is neonatal. Age of onset can vary across affected individuals.