Living with Diverticulosis of bowel, hernia, and retinal detachment
A very rare genetic condition with Marfan-like body features, eye problems, hernias, and pouches in the bowel or bladder.
Understanding Diverticulosis of bowel, hernia, and retinal detachment
People with this condition have marfanoid features, meaning a body build like that seen in Marfan syndrome. These include severe nearsightedness, retinal detachment (the light-sensitive layer of the eye pulls away), and a heart valve problem called mitral valve prolapse. They also have hernias and pouches (diverticula) in the bowel or bladder. GARD notes there have been no new descriptions in the medical literature since 1996.
Signs & symptoms
GARD doesn't list specific symptoms for this condition separately, but the summary describes these features:
- Marfan-like body build (marfanoid habitus)
- Severe nearsightedness (myopia)
- Retinal detachment
- Mitral valve prolapse (heart valve problem)
- Groin hernias (inguinal or femoral)
- Pouches in the bowel or bladder (diverticula)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include digestive system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in a person's genes cause this condition. It doesn't list a specific gene.
Also known as: marfanoid syndrome, de silva type
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Diverticulosis of bowel, hernia, and retinal detachment.
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