Overview
Glomerulonephritis-sparse hair-telangiectasis syndrome is an extremely rare genetic condition that affects multiple body systems, particularly the kidneys, hair, and blood vessels. The disease is sometimes referred to by its component features. People with this syndrome develop glomerulonephritis, which is inflammation and damage to the tiny filtering units (glomeruli) in the kidneys. This can lead to protein leaking into the urine, swelling, and progressive kidney problems. Affected individuals also have noticeably sparse or thin hair from early in life, and they develop telangiectasias, which are small, visible clusters of dilated blood vessels near the surface of the skin. These spider-like blood vessel markings can appear on the face and other parts of the body. Because the condition is so rare, with only a handful of cases described in the medical literature, the full range of symptoms and the best treatment approaches are not yet well understood. Treatment is mainly supportive and focuses on managing kidney disease, which may include medications to control blood pressure and reduce protein loss in the urine. In severe cases, kidney failure may require dialysis or transplantation. There is currently no cure for this syndrome, and management involves a team of specialists working together to address each aspect of the condition.
Key symptoms:
Kidney inflammation (glomerulonephritis)Protein in the urineSwelling of the face, hands, or feetSparse or thin hairVisible small red blood vessels on the skin (telangiectasias)High blood pressureReduced kidney function over timeFatigue and tirednessSlow hair growthSkin changes with visible blood vessel patterns
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Glomerulonephritis-sparse hair-telangiectasis syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Glomerulonephritis-sparse hair-telangiectasis syndrome at this time.
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Glomerulonephritis-sparse hair-telangiectasis syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe is the kidney involvement, and what does the kidney biopsy show?,What medications will be used to protect kidney function, and what are their side effects?,How often should kidney function be monitored with blood and urine tests?,Is genetic testing recommended for our family, and should other family members be screened?,What signs should prompt us to seek urgent medical care?,Are there dietary changes that could help slow kidney disease progression?,What is the likelihood of needing dialysis or a kidney transplant in the future?
Common questions about Glomerulonephritis-sparse hair-telangiectasis syndrome
What is Glomerulonephritis-sparse hair-telangiectasis syndrome?
Glomerulonephritis-sparse hair-telangiectasis syndrome is an extremely rare genetic condition that affects multiple body systems, particularly the kidneys, hair, and blood vessels. The disease is sometimes referred to by its component features. People with this syndrome develop glomerulonephritis, which is inflammation and damage to the tiny filtering units (glomeruli) in the kidneys. This can lead to protein leaking into the urine, swelling, and progressive kidney problems. Affected individuals also have noticeably sparse or thin hair from early in life, and they develop telangiectasias, whic
How is Glomerulonephritis-sparse hair-telangiectasis syndrome inherited?
Glomerulonephritis-sparse hair-telangiectasis syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Glomerulonephritis-sparse hair-telangiectasis syndrome typically begin?
Typical onset of Glomerulonephritis-sparse hair-telangiectasis syndrome is childhood. Age of onset can vary across affected individuals.
Which specialists treat Glomerulonephritis-sparse hair-telangiectasis syndrome?
1 specialists and care centers treating Glomerulonephritis-sparse hair-telangiectasis syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.