Living with CELSR1-related late-onset primary lymphedema
A rare genetic condition that causes swelling in one or both legs from a problem in the lymph system.
Understanding CELSR1-related late-onset primary lymphedema
Severity varies. Almost all females with the gene change have it, usually starting in childhood or the teen years. Not all males with the gene change develop it, and when they do it starts later. Special scans (lymphoscintigraphy) in more severe cases show lymph vessel changes.
Signs & symptoms
GARD doesn't list a separate symptom list for this condition. Its summary describes this feature:
- Swelling in one or both legs (lymphedema)
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 genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in CELSR1 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
- Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- 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 Children's Skin Disease Foundation
- 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 CELSR1 gene cause this condition. It is inherited in an autosomal dominant way, so one changed copy of the gene can cause it.
Also known as: cadherin egf lag seven-pass g-type receptor 1-related late-onset primary lymphedema
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- 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 CELSR1-related late-onset primary lymphedema.
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