Living with Grange syndrome
A rare condition affecting the blood vessels, with narrowed or blocked arteries, plus bone, finger, and heart differences.
Understanding Grange syndrome
Arteries that supply the kidneys, brain, and heart may be narrowed (stenosis) or blocked (occlusion). Narrowed kidney arteries can cause chronic high blood pressure, and blocked brain arteries can cause a stroke. Other features can include short or fused fingers and toes, fragile bones, and learning disabilities. Most people also have heart defects present from birth. It is usually noticed in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Narrowed arteries (arterial stenosis)
- High blood pressure
- Fused fingers or toes (syndactyly)
- Bones that break easily
- Learning disabilities
- Heart valve leakage (aortic regurgitation)
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 autoimmune and inflammatory disease specialists, bone and joint specialists, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in YY1AP1 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
- autoimmune and inflammatory disease specialists (rheumatologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); 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
Changes in the YY1AP1 gene cause this condition. GARD lists both autosomal dominant and autosomal recessive inheritance.
Also known as: grange occlusive arterial syndrome; grng; progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome; progressive arterial occlusive disease, hypertension, heart defect, bone fragility, brachysyndactyly 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 Grange syndrome.
Explore research for Grange syndrome
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- Recruiting studies from ClinicalTrials.gov
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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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