Congenital short bowel syndrome

Congenital short bowel syndrome (CSBS), also known as congenital short gut syndrome or congenital short small bowel, is an extremely rare condition present at birth in which the small intestine is significantly shorter than normal. In healthy full-term newborns, the small intestine typically measures approximately 200–300 cm, but in CSBS the intestinal length may be dramatically reduced, sometimes to less than one-third of normal. This shortened bowel results in a markedly reduced absorptive surface area, leading to intestinal failure and severe malabsorption of nutrients, fluids, and electrolytes. The condition primarily affects the gastrointestinal system and can be associated with intestinal malrotation. Affected neonates typically present shortly after birth with chronic diarrhea, vomiting, failure to thrive, dehydration, and progressive malnutrition. The exact cause of CSBS is not fully understood, though it is believed to result from a defect in intestinal development during fetal life. Some cases have been linked to mutations in the CLMP gene (encoding CXADR-like membrane protein), which plays a role in intestinal elongation and morphogenesis during embryonic development. Both autosomal recessive and sporadic forms have been described. CSBS must be distinguished from acquired short bowel syndrome, which results from surgical resection of the intestine due to conditions such as necrotizing enterocolitis or volvulus. Management of congenital short bowel syndrome centers on providing adequate nutrition to support growth and development. Most affected infants require long-term total parenteral nutrition (TPN) to bypass the inadequate intestinal absorption. Enteral feeding is gradually introduced as tolerated to promote intestinal adaptation, a process by which the remaining bowel may increase its absorptive capacity over time. Complications of prolonged TPN, including liver disease (intestinal failure-associated liver disease), catheter-related infections, and metabolic disturbances, represent significant challenges. In severe cases where intestinal adaptation is insufficient and TPN-related complications become life-threatening, small bowel transplantation may be considered. Multidisciplinary care involving pediatric gastroenterologists, surgeons, dietitians, and specialized nutrition teams is essential for optimizing outcomes.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

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