Understanding Congenital Anomalies of Digestive System: Causes, Symptoms, and Management

What is it?

Congenital anomalies of the digestive system can occur anywhere along the gastrointestinal (GI) tract- from the esophagus to the anus. These anomalies can be complete blockage of organs (atresia), partial blockage (stenosis) malrotation, volvulus (twisted organs) and undeveloped nerves such as Hirschsprung’s disease. Other anomalies may include abdominal wall defects, and tracheoesophageal fistula. The reason for these anomalies is not always known but some are probably due to genetic reasons.

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Additional names

This group contains additional names:
- Pancreas Anomalies
- Annular pancreas
- Aplasia of pancreas
- Absence of pancreas
- Hypoplasia of pancreas
- Malformation of pancreas
- Ectopic pancreas
- Pancreas divisum
- Pancreatic agenesis
- Pancreatic divisum
- Meckel's Diverticulum
- Gallbladder, Bile Ducts and Liver Anomalies
- Atresia and Stenosis of Small Intestine
- Absence of duodenum
- Absence of ileum
- Absence of jejunum
- Atresia of duodenum
- Atresia of ileum
- Atresia of jejunum
- Congenital Cystic Liver Disease
- Atresia and Stenosis of Large Intestine
- Anal atresia
- Absence of anus
- Absence of rectum
- Atresia of rectum
- Atresia of colon
- Imperforate anus
- Intestinal Fixation Anomalies

Signs & symptoms

Symptoms depend on the specific malformation, its location and severity. Atresia and stenosis symptoms may include constipation, difficulty eating, jaundice, swollen abdomen and vomiting. Malrotation does not cause any symptoms unless it's accompanied by volvulus and then it may cause abdominal pain, constipation, diarrhea, rapid breathing and heart rate, rectal bleeding and bile vomiting. Hirschsprung disease may present with constipation, diarrhea, fatigue, swollen abdomen and vomiting.

Diagnosis

Digestive system anomalies diagnosis may be diagnosed during pregnancy with prenatal ultrasound. After birth, imaging tests such as abdomen X-ray, CT and MRI may help the diagnosis along with sigmoidoscopy, blood tests and for Hirschsprung disease a biopsy can be done.

Treatment

Treatment for congenital anomalies of the digestive system is surgical in most of the cases. Laparoscopic surgery is usually done for repairing small defects, while open surgeries are done to repair more severe defects.

☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.

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Source of Information - We analyze big data of more than 23 million patients de-identified medical records from the following sources:

National Institution of Health ∙ World Health Organization ∙ University of Illinois hospital