Living with Angioosteohypotrophic syndrome
A rare condition present from birth with blood vessel malformations that affect the soft tissues and bones of a limb.
Understanding Angioosteohypotrophic syndrome
The malformations lead to overgrowth of soft tissue and underdevelopment of bone. The affected limb is generally shortened, deformed, painful, and swollen, with weak bone and muscle. Usually one part, or several small parts, of a limb are affected. A larger area, including a whole limb, the shoulder area, and the armpit, has been reported.
Signs & symptoms
Symptoms vary. GARD's summary says they include:
- Shortened, deformed limb
- Pain in the limb
- Swelling (edema)
- Weak bone and muscle in the limb
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 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 doesn't describe a cause for this condition yet.
Also known as: angio-osteohypotrophic syndrome; phlebectatic osteohypoplastic angiodysplasia; servelle martorell syndrome; servelle-martorell 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 Angioosteohypotrophic syndrome.
Explore research for Angioosteohypotrophic 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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