Umbilical cord ulceration-intestinal atresia syndrome

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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
Duodenal atresiaHP:0002247Single umbilical arteryHP:0001195Abnormal aortic morphologyHP:0001679Abnormal tricuspid valve morphologyHP:0001702Intestinal atresiaHP:0011100
Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Umbilical cord ulceration-intestinal atresia syndrome.

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No actively recruiting trials found for Umbilical cord ulceration-intestinal atresia syndrome at this time.

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Search ClinicalTrials.gov ↗Join the Umbilical cord ulceration-intestinal atresia syndrome community →

No specialists are currently listed for Umbilical cord ulceration-intestinal atresia syndrome.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA 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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Community

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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.