diverticulosis of bowel, hernia, and retinal detachment
A syndromic intestinal malformation characterized by the association of marfanoid habitus with visceral diverticula. It has been reported in four adults and two siblings from a consanguineous marriage in two different publications. Pediatric cases also presented with diaphragmatic hernia. Other connective tissue disorders with visceral diverticula have been reported previously, suggesting a relationship between these two conditions.
MONDO:0002254
syndromic disease
is_a
MONDO:0004335
digestive system disorder
is_a
Marphanoid syndrome type De Silva
related
diverticulosis of bowel, hernia, and retinal detachment
exact
marfanoid syndrome, De Silva type
exact