U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Diverticulosis of bowel, hernia, and retinal detachment

MedGen UID:
341729
Concept ID:
C1857227
Disease or Syndrome
Synonym: Diverticulosis of Bowel, Hernia, and Retinal Detachment
 
Monarch Initiative: MONDO:0009120
OMIM®: 223330
Orphanet: ORPHA2464

Definition

A rare syndromic intestinal malformation characterized by the association of marfanoid features (including marfanoid habitus, severe myopia, retinal detachment, and mitral valve prolapse) with visceral diverticula (inguinal and/or femoral hernia and diverticula of the large and small bowel or urinary bladder). Some patients also had diaphragmatic eventration. There have been no further descriptions in the literature since 1996. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDiverticulosis of bowel, hernia, and retinal detachment
Follow this link to review classifications for Diverticulosis of bowel, hernia, and retinal detachment in Orphanet.

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...