diverticulosis of bowel, hernia, and retinal detachment
Findings
No curated finding names diverticulosis of bowel, hernia, and retinal detachment yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0009120), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
1 name
Resolves to: diverticulosis of bowel, hernia, and retinal detachment
- Also called
- marfanoid syndrome, De Silva type