Infants with congenital short bowel syndrome (CSBS) are born with a shortened small intestine, with a mean length of 50 cm compared to the normal length of 190 to 280 cm, and intestinal malrotation. Severe malnutrition develops as a result of the hugely reduced absorptive surface of the small intestine, and infants require parenteral nutrition for survival; however, parenteral nutrition itself causes life-threatening complications such as sepsis and liver failure which are associated with a high rate of mortality early in life (summary by van der Werf et al., 2012).
A possible form of congenital short bowel syndrome (see 300048) is caused by mutation in the FLNA gene (300017) on chromosome Xq28. [from OMIM]
Also known as: ACAM, ASAM, CSBM, CSBS, CLMP
Summary: CXADR like membrane protein
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