. Author manuscript; available in PMC: 2013 Oct 1.

Published in final edited form as: Eur J Med Genet. 2012 Jul 7;55(10):548–551. doi: 10.1016/j.ejmg.2012.06.012

Table 1.

Gastrointestinal manifestations in patients with Ehlers-Danlos syndrome

EDS subtype (historic nomenclature)	Genetic defect	Gastrointestinal manifestations
Classic (types I+II)	COL5A1, COL5A2	Rectal prolapse, megacolon, megacystis
Hypermobility (type III)^*		Functional bowel disorders, gastro-esophageal reflux disease, gastritis, irritable bowel syndrome, celiac disease
Hypermobility, TNXB-related	TNXB	Gastrointestinal bleeding, Rectal prolapse, diverticulitis, bowel perforation
Vascular (type IV)	COL3A1	Bowel, spleen and liver rupture
Kyphoscoliotic (type VIA)^**	PLOD1	Gastro-esophageal reflux
Arthrochalasia (type VIIB)^***	COL1A1, COL1A2
Dermatosparaxis (type VIIC)^***	ADAMTS2
Spondylocheiro dysplastic^***	SLC39A13
D4ST1-deficient EDS^**	CHST14	constipation, abdominal pain, absent gastrocolic omentum, spontaneous volvulus of small intestine, gastric ulcer, duodenal malrotation

In most patients with the hypermobility type pathogenic mutations have not been identified

^**

Described in single patients

^***

Significant gastrointestinal complications have not been reported