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Overview of Digestive Tract Birth Defects

By

Jaime Belkind-Gerson

, MD, MSc, University of Colorado

Reviewed/Revised Aug 2023
VIEW PROFESSIONAL VERSION

A birth defect Overview of Birth Defects Birth defects, also called congenital anomalies, are physical abnormalities that occur before a baby is born. They are usually obvious within the first year of life. The cause of many birth... read more can occur anywhere along the digestive tract—in the esophagus Throat and Esophagus The throat (pharynx) lies behind and below the mouth. When food and fluids leave the mouth, they pass through the throat. Swallowing of food and fluids begins voluntarily and continues automatically... read more , stomach Stomach The stomach is a large, bean-shaped, hollow muscular organ consisting of four regions: Cardia Fundus Body Antrum read more , small intestine Small Intestine The duodenum is the first segment of the small intestine, and the stomach releases food into it. Food enters the duodenum through the pyloric sphincter in amounts that the small intestine can... read more , large intestine Large Intestine The large intestine consists of the Cecum and ascending (right) colon Transverse colon Descending (left) colon Sigmoid colon (which is connected to the rectum) read more , rectum Rectum and Anus The rectum is a chamber that begins at the end of the large intestine, immediately following the sigmoid colon, and ends at the anus ( Home.see also page Overview of the Anus and Rectum). Ordinarily... read more , or anus Rectum and Anus The rectum is a chamber that begins at the end of the large intestine, immediately following the sigmoid colon, and ends at the anus ( Home.see also page Overview of the Anus and Rectum). Ordinarily... read more .

  • The digestive organs may be incompletely developed or abnormally positioned, causing blockages, or the muscles or nerves of the digestive tract may be defective.

  • Symptoms depend on the location of the defect but may include crampy abdominal pain, abdominal swelling, and vomiting.

  • The diagnosis usually is based on imaging tests and other tests.

  • Surgery usually is required.

Birth defects along the digestive tract can include the following:

In many cases, an organ is not fully developed or is abnormally positioned, which often causes narrowing or blockage (obstruction). Blockages can be present almost anywhere along the digestive tract, including in the esophagus, intestines, rectum, or anus. Sometimes a segment of the digestive tract does not form or develop normally or forms and then is destroyed by a problem that occurs in the womb before birth. The internal or external muscles surrounding the abdominal cavity may weaken or develop holes, as is the case with abdominal wall defects and diaphragmatic hernia. The nerves to the intestines may also fail to develop, as is the case with Hirschsprung disease.

Symptoms of Digestive Tract Birth Defects

Symptoms depend on what the birth defect is and where it is located. Infants may have crampy abdominal pain, abdominal swelling, and/or vomiting. Problems with feeding can occur and infants may fail to gain weight normally. Some infants develop a yellowish discoloration of the skin called jaundice Jaundice in the Newborn Jaundice is a yellow color to the skin and/or eyes caused by an increase in bilirubin in the bloodstream. Bilirubin is a yellow substance formed when hemoglobin (the part of red blood cells... read more Jaundice in the Newborn .

Diagnosis of Digestive Tract Birth Defects

  • Imaging tests (x-rays and ultrasonography)

Other testing may include blood tests and biopsies. During a biopsy, a piece of tissue is removed for examination under a microscope.

Other tests, such as genetic testing, may be done depending on the test results and symptoms.

Treatment of Digestive Tract Birth Defects

  • Surgery

Most digestive tract defects require surgery. Typically, blockages are surgically opened. Weakenings or holes in the muscles surrounding the abdominal cavity are surgically repaired.

NOTE: This is the Consumer Version. DOCTORS: VIEW PROFESSIONAL VERSION
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