Living with Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
A genetic condition that affects hair, the lymph system, small blood vessels in the skin, and the kidneys.
Understanding Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
This condition affects children and gets worse over time. It has four main features: hair loss (hypotrichosis), swelling in the arms and legs (lymphedema), small red spots on the skin (telangiectasia), and kidney problems (renal defect).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- No eyebrows
- No eyelashes
- Sparse scalp hair
- Swelling from extra lymph fluid under the skin (lymphedema)
- Fluid collecting around the testicle (hydrocele)
- Skin that looks see-through (dermal translucency)
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
This condition is caused by a variant (change) in the SOX18 gene. It is inherited in an autosomal dominant pattern, which means a person needs to inherit only one changed copy of the gene to have the condition.
Also known as: hltrs (hypotrichosis, lymphedema, telangiectasia, renal defect) syndrome; hypotrichosis, lymphedema, telangiectasia, renal defect syndrome; telangiectatic membranoproliferative glomerulonephritis
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 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome.
Explore research for Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Explore actively recruiting Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome studies with HealthSpark.
Find actively recruiting studies for Hypotrichosis-lymphedema-telangiectasia-renal defect 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
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.