Living with Rienhoff syndrome
A rare inherited condition that affects blood vessels, bones, the face, and skin, and can cause weak, bulging areas in arteries.
Understanding Rienhoff syndrome
Blood vessels in the brain, chest, or belly can develop aneurysms (weak, bulging areas) or tears in the vessel wall. People may have a different chest shape, a curved spine, loose joints, long fingers, or foot changes. Features vary widely, even among family members. Pregnancy can involve serious complications, including tearing of the uterus.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bulging in the aorta wall (aortic root aneurysm)
- Long, slender fingers (arachnodactyly)
- Low muscle tone and delayed motor skills
- Cleft soft palate
- Broad face and bulging eyes
- Flat feet and stiff finger or toe joints
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.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 The John Ritter Foundation for Aortic Health
- 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 lists autosomal dominant inheritance, so one changed copy of a gene can be enough. It does not name a gene in this record.
Also known as: loeys-dietz syndrome 5; loeys-dietz syndrome type 5
Patient organizations
- The John Ritter Foundation for Aortic HealthRienhoff syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Rienhoff syndrome.
Explore research for Rienhoff syndrome
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- Recruiting studies from ClinicalTrials.gov
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- 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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