Living with MASS syndrome
A connective tissue condition with heart valve, eye, aorta, skin, and bone features that overlap with Marfan syndrome.
Understanding MASS syndrome
Connective tissue gives tissues shape and strength. Features include a heart valve problem (mitral valve prolapse), nearsightedness, mild aorta enlargement that does not progress, and skin and bone findings like those in Marfan syndrome. GARD says treatment is based on a person's symptoms.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Mitral valve prolapse (heart valve that does not close well)
- Mild widening of the aorta
- Tall height
- Long, slender fingers
- Stretch marks
- Widening of the sac around the spinal cord (dural ectasia)
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
The Marfan Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Expert lists: The Marfan Foundation
- 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 The Marfan Foundation and other patient organizations
- 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
Changes in the FBN1 gene cause this condition. It is inherited in an autosomal dominant way, so a change in one copy of the gene can be enough.
Also known as: mass phenotype; octd; overlap connective tissue disease
Patient organizations
- The Marfan FoundationMASS syndrome · United States
- Coalition for Heritable Disorders of Connective TissueMASS syndrome · United States
- Marfan WorldMASS syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with MASS syndrome.
Explore research for MASS syndrome
Explore actively recruiting MASS syndrome studies with HealthSpark.
Find actively recruiting studies for MASS syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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