Overview
Epilepsy-telangiectasia syndrome is an extremely rare genetic condition that combines two main features: epilepsy (recurrent seizures) and telangiectasias (small, visible clusters of blood vessels on the skin or mucous membranes). This condition is sometimes also referred to as epilepsy with cutaneous telangiectasia. The seizures in this syndrome can vary in type and severity, and they typically begin in childhood. The telangiectasias appear as small red or purple marks on the skin, often on the face, arms, or other areas of the body. These dilated blood vessels are generally not dangerous on their own but serve as an important diagnostic clue when seen alongside epilepsy. Because this syndrome is so rare, the medical understanding of it remains limited. Treatment is primarily focused on managing symptoms. Anti-seizure medications (also called antiepileptic drugs) are the main approach to controlling epilepsy, and the specific medication chosen depends on the type and frequency of seizures. The telangiectasias usually do not require treatment unless they cause cosmetic concerns, in which case laser therapy may be considered. Patients benefit from regular follow-up with a neurologist and a dermatologist to monitor both aspects of the condition. Genetic counseling is recommended for affected families to understand the inheritance pattern and recurrence risk.
Key symptoms:
Seizures (epilepsy)Small visible blood vessel clusters on the skin (telangiectasias)Red or purple marks on the face or bodyPossible learning difficultiesPossible developmental delaysSkin changes that may worsen over timePossible difficulty concentrating
Clinical phenotype terms (10)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Epilepsy-telangiectasia syndrome.
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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 Epilepsy-telangiectasia syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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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.What type of seizures does my child have, and what is the best medication to control them?,Are there any activities my child should avoid because of the seizures?,What should I do if my child has a seizure that lasts more than 5 minutes?,Is genetic testing recommended for our family, and what could it tell us?,Will the telangiectasias get worse over time, and are there treatment options for them?,Could this condition affect my child's learning or development?,Are there any clinical trials or new research studies we should know about?
Common questions about Epilepsy-telangiectasia syndrome
What is Epilepsy-telangiectasia syndrome?
Epilepsy-telangiectasia syndrome is an extremely rare genetic condition that combines two main features: epilepsy (recurrent seizures) and telangiectasias (small, visible clusters of blood vessels on the skin or mucous membranes). This condition is sometimes also referred to as epilepsy with cutaneous telangiectasia. The seizures in this syndrome can vary in type and severity, and they typically begin in childhood. The telangiectasias appear as small red or purple marks on the skin, often on the face, arms, or other areas of the body. These dilated blood vessels are generally not dangerous on
At what age does Epilepsy-telangiectasia syndrome typically begin?
Typical onset of Epilepsy-telangiectasia syndrome is childhood. Age of onset can vary across affected individuals.
Which specialists treat Epilepsy-telangiectasia syndrome?
1 specialists and care centers treating Epilepsy-telangiectasia syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.