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Last updated: 1/16/2025
Years published: 1994, 2003, 2025
NORD gratefully acknowledges Gioconda Alyea, MD (FMG), MS, National Organization for Rare Disorders, for assistance in the preparation of this report.
Duodenal atresia and duodenal stenosis are abnormalities in which there is an absence or complete closure (atresia) in the first part of the small intestines (duodenum) or narrowing (stenosis) of the duodenum. These conditions prevent food from passing through the digestive system properly.
It is thought to develop during early fetal development, but its exact cause is not fully understood.
About 30% to 40% of children with duodenal atresia have Down syndrome (trisomy 21). While genetic variants have been linked to duodenal atresia in rare instances, no specific genetic causes have been identified for cases of isolated duodenal atresia.
Signs and symptoms of duodenal atresia appear shortly after birth and may include bilious (yellow or green) vomiting, swollen abdomen, constipation, jaundice (yellowing of the skin) and excess amniotic fluid during pregnancy detected on ultrasound (polyhydramnios). Duodenal stenosis (partial blockage) symptoms can develop over time and may include vomiting episodes, dehydration and difficulty gaining weight or feeding.
Other associated abnormalities may be found in over half of those affected with duodenal atresia or duodenal stenosis.
Surgery to correct the atresia is the definitive treatment for duodenal atresia. However, newborn babies need to be stabilized before the surgical repair with proper hydration and nutrition.
Duodenal atresia and duodenal stenosis are abnormalities in which there is an absence or complete closure (atresia) in the first part of the small intestines (duodenum) or narrowing (stenosis) of the duodenum. These obstructions in the digestive tract of infants prevent proper absorption of food.
The defect in the duodenum may be in the area where the pancreatic and bile ducts join as they open into the first part of the small intestines (ampulla of Vater,) or in the portion of the duodenum furthest from the opening of the ampulla of Vater. There may be an absence of the channel at the top of the small intestine, a ring or web in the duodenum, an abnormally small channel at the top of the small intestines, or the duodenum may end with just a short chord going to the bowel.
Duodenal atresia is classified into three types based on the structure of the blockage:
Symptoms of a complete blockage of the duodenum may include:
In rare cases where the blockage is above the ampulla of Vater, vomiting may not be bilious. If excessive vomiting is left untreated, it can lead to an imbalance in the body’s electrolytes, causing a condition called hypokalemic hypochloremic metabolic alkalosis. This is a condition where the blood is too alkaline (metabolic alkalosis) due to low levels of both potassium (hypokalemia) and chloride (hypochloremia) ions, often occurring together as a result of factors like excessive vomiting or certain diuretic use, causing loss of stomach acid and electrolytes which can lead to dehydration and other complications.
Symptoms of partial duodenal blockage vary depending on the severity. They may wax and wane not appearing for weeks, months, or years. Prolonged vomiting along with dehydration may also occur.
Other problems associated with this disorder may include:
In 30%–52% of affected children, duodenal atresia is an isolated condition. Approximately 20%–40% of infants with duodenal atresia have Down syndrome. Around 20%–25% of infants also have congenital heart anomalies.
Other associated conditions may include:
Duodenal atresia is thought to develop during early fetal development, but its exact cause is not fully understood. The most accepted theories include:
Despite these theories, the precise mechanisms behind duodenal atresia are not yet fully understood. Other factors may include vascular anomalies affecting blood supply to the developing duodenum, abnormalities in neural cell migration which could disrupt normal tissue development and genetic predisposition. Further research is needed to pinpoint the exact causes.
Duodenal atresia occurs in 1 in 5,000 to 10,000 live births. It is often associated with other anomalies, including trisomy 21/Down syndrome and cardiac malformations. It is seen in about 3% of the people with trisomy 21/Down syndrome. There is no difference in prevalence between males and females. There is an association with VACTERL, annular pancreas and other bowel atresias, including jejunal atresia, ileal atresia and rectal atresia.
Duodenal atresia is often detected during pregnancy through ultrasound. A characteristic finding is the double-bubble sign, showing two fluid-filled structures, the stomach and the upper duodenum (blocked area).
If a double-bubble sign is observed, the sonographer ensures there is a connection between the two structures to rule out other conditions like foregut duplication cysts or abdominal cysts.
After birth an abdominal X-ray is the first step in diagnosing duodenal atresia. The classic double-bubble sign appears as a large air-filled stomach on the left side of the abdomen and a smaller air-filled duodenum on the right side. The absence of gas in the intestines below the obstruction confirms the diagnosis.
Rarely, air may appear in the intestines beyond the blockage due to an abnormal connection with the biliary tree.
If the diagnosis is unclear or additional conditions are suspected, further tests may include:
The earlier duodenal atresia is identified and treated with surgery, the better the outcome. Some affected babies may need parenteral nutrition (feeding through a vein or directly to the stomach) until they can eat normally.
The standard surgery is typically performed shortly after birth using an upper transverse laparotomy (a horizontal incision in the upper abdomen). This surgery creates a connection (anastomosis) to bypass the blockage.
Advancements in surgical techniques now offer less invasive options that improve cosmetic results and reduce recovery times:
The anastomotic techniques used to bypass the obstruction include:
Over time, the diamond-shaped duodenoduodenostomy, introduced in 1977, became the preferred method due to its superior functional outcomes. This technique optimizes the flow of food through the gastrointestinal tract and reduces the risk of complications like anastomotic dysfunction.
Minimally invasive techniques, including laparoscopic repair and supraumbilical incisions, reduce the risk of long-term complications like adhesive small bowel obstruction (SBO) and incisional hernias, which are more common with open laparotomies. These approaches also address cosmetic concerns, which are increasingly recognized as important for patient satisfaction.
Most children had good long-term outcomes, though some experienced digestive issues.
Successful recovery involves more than surgery. Enhanced Recovery After Surgery® (ERAS®) protocols focus on improving outcomes with evidence-based care, including:
Studies show that a single day of antibiotics, particularly cefazolin, is effective in preventing infections after surgery. Longer courses offer no additional benefit and may be unnecessary.
Most children recover well after surgery, but some may experience:
Parents should receive clear, written information at discharge about what to expect and how to manage potential concerns. Individualized follow-up care ensures each child’s specific needs are addressed.
Genetic counseling may be recommended, especially because 30%-40% of babies with duodenal atresia also have trisomy 21 (Down syndrome). This counseling can help families understand the condition and its potential genetic implications.
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
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Some current clinical trials also are posted on the following page on the NORD website:
https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/
For information about clinical trials sponsored by private sources, contact: www.centerwatch.com
For information about clinical trials conducted in Europe, contact: https://www.clinicaltrialsregister.eu/
Røkkum H, Treider MA, Børke WB, Bergersen J, Lassen K, Støen R, Sæter T, Bjørnland K. Enhanced recovery protocol for congenital duodenal obstruction – initial experiences with development and implementation. Pediatr Surg Int. 2024 Dec 27;41(1):49. doi: 10.1007/s00383-024-05951-2. PMID: 39729101; PMCID: PMC11680611.
Jadhav P, Choi PM, Ignacio R, Keller B, Gollin G. Antibiotic management after neonatal enteric operations in US children’s hospitals. J Pediatr Surg. 2024 Nov 5;60(3):162052. doi: 10.1016/j.jpedsurg.2024.162052. Epub ahead of print. PMID: 39549682.
Treider MA, Røkkum H, Sæter T, Bjørnland K. “Gastrointestinal Quality of Life After Congenital Duodenal Obstruction Repair: A Nationwide Long-term Follow-up Study”. J Pediatr Surg. 2024 Sep 20;60(1):161938. doi: 10.1016/j.jpedsurg.2024.161938. Epub ahead of print. PMID: 39332973.
Sigmon DF, Eovaldi BJ, Cohen HL. Duodenal Atresia and Stenosis. [Updated 2023 Jun 26]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK470548/ Accessed Jan 14, 2025.
Karrer M F. Pediatric Duodenal Atresia. Medscape Reference. Jul 07, 2020. Available from: https://emedicine.medscape.com/article/932917-overview# Accessed Jan 14, 2025.
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