Overview
Umbilical cord ulceration-intestinal atresia syndrome is an extremely rare condition that is present at birth. In this syndrome, babies are born with two main problems: ulcers (open sores) on the umbilical cord and intestinal atresia, which means that part of the intestine (bowel) is blocked or completely closed off. The intestinal blockage prevents normal passage of food and waste through the digestive system. The umbilical cord ulceration can sometimes lead to bleeding before or during birth, which can be life-threatening. Babies with this condition typically show signs of bowel obstruction shortly after birth, including vomiting (often bile-stained or green), a swollen belly, and failure to pass stool. The umbilical cord abnormalities may be noticed during pregnancy on ultrasound or at the time of delivery. Treatment is primarily surgical, as the blocked portion of the intestine needs to be repaired or reconnected to restore normal bowel function. Because this syndrome is so rare, with only a handful of cases reported in the medical literature, much remains unknown about its exact cause and long-term outcomes. Early recognition and prompt surgical intervention are critical to improving survival and quality of life for affected newborns.
Key symptoms:
Open sores or ulcers on the umbilical cordBlockage of the intestine (intestinal atresia)Bile-stained (green) vomiting shortly after birthSwollen or distended bellyFailure to pass first stool (meconium)Bleeding from the umbilical cord before or during birthFeeding difficulties in the newborn periodAbnormal appearance of the umbilical cordSigns of bowel obstruction
Clinical phenotype terms (9)— hover any for plain English
Sporadic
Usually appears on its own, not inherited from a parent
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Umbilical cord ulceration-intestinal atresia syndrome.
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Specialists
View all specialists →No specialists are currently listed for Umbilical cord ulceration-intestinal atresia 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 Umbilical cord ulceration-intestinal atresia syndrome.
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my baby's intestinal blockage, and how much bowel is affected?,What type of surgery will be needed, and what are the risks?,Will my baby be able to feed normally after surgery, or will special nutrition be needed?,Is there a risk of short bowel syndrome, and how would that be managed?,Should we pursue genetic testing to look for an underlying cause?,What is the chance of this happening again in a future pregnancy?,What long-term follow-up will my child need as they grow?
Common questions about Umbilical cord ulceration-intestinal atresia syndrome
What is Umbilical cord ulceration-intestinal atresia syndrome?
Umbilical cord ulceration-intestinal atresia syndrome is an extremely rare condition that is present at birth. In this syndrome, babies are born with two main problems: ulcers (open sores) on the umbilical cord and intestinal atresia, which means that part of the intestine (bowel) is blocked or completely closed off. The intestinal blockage prevents normal passage of food and waste through the digestive system. The umbilical cord ulceration can sometimes lead to bleeding before or during birth, which can be life-threatening. Babies with this condition typically show signs of bowel obstruction
How is Umbilical cord ulceration-intestinal atresia syndrome inherited?
Umbilical cord ulceration-intestinal atresia syndrome follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Umbilical cord ulceration-intestinal atresia syndrome typically begin?
Typical onset of Umbilical cord ulceration-intestinal atresia syndrome is neonatal. Age of onset can vary across affected individuals.