Living with Weill-Marchesani syndrome 2, dominant
A genetic eye condition with glaucoma, shifted eye lenses, stiff joints, and short stature.
Understanding Weill-Marchesani syndrome 2, dominant
GARD describes joint stiffness that worsens over time, glaucoma, short stature, and a dislocated (shifted) eye lens. It is similar to Moore-Federman syndrome. It can begin at any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Shifted eye lens (ectopia lentis)
- Glaucoma
- Short stature
- Joint stiffness that worsens over time
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 eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in FBN1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); 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
This condition is caused by changes in the FBN1 gene. A child can get it from one parent with the changed gene (autosomal dominant).
Also known as: fbn1-related weill-marchesani syndrome; gemss; gemss syndrome; glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome; glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome; glaucoma, ectopia, microspherophakia, stiff joints and short stature syndrome
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 Weill-Marchesani syndrome 2, dominant.
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