Congenital short bowel syndrome

Definition:

Congenital short bowel syndrome (CSBS) is an inherited intestinal disorder occurring in newborns and infants. Affected babies typically present a shortened bowel (approximately 50 cm) compared with normal length rages from 190 to 280 cm. CSBS causes malabsorption and the most common symptoms including chronic diarrhea, vomiting and weight loss, thus leading to failure to thrive. Gene mutation in coxsackie and adenovirus receptor-like membrane protein (CLMP) has been reported to be associated with this disease.

References:

[1]. Christine S Van Der Werf, et al. CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome. Gastroenterology. 2012 Mar;142(3):453-462.e3. [Content Brief]

[2]. Christine S van der Werf, et al. Congenital Short Bowel Syndrome: from clinical and genetic diagnosis to the molecular mechanisms involved in intestinal elongation. Biochim Biophys Acta. 2015 Nov;1852(11):2352-61. [Content Brief]

[3]. Paul W Wales, et al. Short bowel syndrome: epidemiology and etiology. Semin Pediatr Surg. 2010 Feb;19(1):3-9. [Content Brief]

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