Colonic atresia

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ORPHA:1198OMIM:303650Q42.9
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2Specialists8Treatment centers

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Overview

Colonic atresia is a rare congenital malformation characterized by a complete obstruction (atresia) of the colon, meaning that a segment of the large intestine fails to develop a continuous lumen during fetal development. It is one of the least common forms of intestinal atresia, accounting for approximately 5-15% of all intestinal atresias. The condition primarily affects the gastrointestinal system and presents in the neonatal period with signs of distal intestinal obstruction, including abdominal distension, failure to pass meconium, and bilious vomiting. The atresia most commonly involves the ascending colon or the area near the splenic flexure, and may present as a membrane, a fibrous cord, or a complete gap between the proximal and distal segments of the colon. The exact cause of colonic atresia is believed to be a vascular accident occurring during fetal development, leading to ischemic necrosis and resorption of the affected bowel segment. Most cases are sporadic, though rare familial occurrences and associations with other congenital anomalies (such as gastroschisis, Hirschsprung disease, or musculoskeletal abnormalities) have been reported. Diagnosis is typically made shortly after birth through clinical evaluation, abdominal radiographs showing dilated proximal bowel loops with absence of distal gas, and contrast enema studies revealing a microcolon (unused distal colon). Treatment for colonic atresia is surgical and is required urgently in the neonatal period. The surgical approach typically involves resection of the atretic segment with primary anastomosis or, in some cases, creation of a temporary colostomy followed by later reanastomosis. Prognosis is generally favorable when the condition is identified and treated promptly, with most infants achieving normal bowel function after surgical repair. However, outcomes may be influenced by the presence of associated anomalies, prematurity, or complications such as short bowel syndrome in cases with extensive bowel involvement.

Clinical phenotype terms— hover any for plain English:

GastroschisisHP:0001543Abdominal situs inversusHP:0003363Peptic ulcerHP:0004398Colonic atresiaHP:0010448Abnormal mesentery morphologyHP:0100016Duodenal stenosisHP:0100867
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 ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Colonic atresia.

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No actively recruiting trials found for Colonic atresia at this time.

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Specialists

2 foundView all specialists →
NM
Nelson Piché, MD
Specialist
PI on 1 active trial
MM
Marcin Banasiuk, MD
Specialist
PI on 1 active trial

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 Colonic atresia.

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Community

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Latest news about Colonic atresia

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Caregiver Resources

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Common questions about Colonic atresia

What is Colonic atresia?

Colonic atresia is a rare congenital malformation characterized by a complete obstruction (atresia) of the colon, meaning that a segment of the large intestine fails to develop a continuous lumen during fetal development. It is one of the least common forms of intestinal atresia, accounting for approximately 5-15% of all intestinal atresias. The condition primarily affects the gastrointestinal system and presents in the neonatal period with signs of distal intestinal obstruction, including abdominal distension, failure to pass meconium, and bilious vomiting. The atresia most commonly involves

How is Colonic atresia inherited?

Colonic atresia follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Colonic atresia typically begin?

Typical onset of Colonic atresia is neonatal. Age of onset can vary across affected individuals.

Which specialists treat Colonic atresia?

2 specialists and care centers treating Colonic atresia are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.