Overview
Hypohidrotic ectodermal dysplasia (HED), also known as Christ-Siemens-Touraine syndrome, is a genetic condition that affects the development of structures that come from the ectoderm — the outer layer of the embryo. This means the skin, hair, nails, teeth, and sweat glands do not develop normally. The hallmark features of HED are reduced ability to sweat (hypohidrosis), sparse and thin hair (hypotrichosis), and missing or abnormally shaped teeth (hypodontia). Because the body cannot sweat properly, people with HED are at serious risk of overheating (hyperthermia), which can be life-threatening, especially in infants and young children. Beyond the three main features, individuals may also have dry skin, dark circles around the eyes, a flattened bridge of the nose, and prominent forehead. The condition is present from birth, though it may not be recognized immediately. Some babies with HED experience unexplained high fevers because they cannot cool themselves through sweating. There is currently no cure for HED, and treatment focuses on managing symptoms. This includes avoiding overheating, using cooling devices, dental treatments such as dentures or implants, and skin moisturizers. Recent research into a protein replacement therapy (ER004) given before birth has shown promise in clinical trials, but it is not yet widely available. With proper management and awareness of heat-related risks, most people with HED can live full and productive lives.
Also known as:
Key symptoms:
Reduced or absent sweatingThin, sparse, light-colored hairMissing teeth or cone-shaped teethDry skinOverheating and heat intoleranceFrequent respiratory infectionsDry eyesDry nose with crustingDark circles around the eyesFlattened bridge of the noseProminent foreheadThin or absent eyebrows and eyelashesPeeling skin in newbornsDifficulty feeding in infancyHoarse or raspy voice
Clinical phenotype terms (31)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
FDA & Trial Timeline
2 eventsNanyang Technological University — NA
Ottawa Heart Institute Research Corporation — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Hypohidrotic ectodermal dysplasia.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Hypohidrotic ectodermal dysplasia 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 Hypohidrotic ectodermal dysplasia.
Community
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Start the conversation →Latest news about Hypohidrotic ectodermal dysplasia
Disease timeline:
New recruiting trial: HED-Start: Evaluating a Positive Skills Intervention for Patients New on Haemodialysis
A new clinical trial is recruiting patients for Hypohidrotic ectodermal dysplasia
Caregiver Resources
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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.How severe is my child's sweating ability, and what specific cooling strategies do you recommend?,When should we start dental treatment, and what options are available for young children?,Are there any clinical trials for new treatments that my child might be eligible for?,What school accommodations should we request to keep my child safe?,How can we tell the difference between a normal fever from illness and dangerous overheating?,Should other family members be tested to see if they carry the gene change?,What specialists should we see regularly, and how often?
Common questions about Hypohidrotic ectodermal dysplasia
What is Hypohidrotic ectodermal dysplasia?
Hypohidrotic ectodermal dysplasia (HED), also known as Christ-Siemens-Touraine syndrome, is a genetic condition that affects the development of structures that come from the ectoderm — the outer layer of the embryo. This means the skin, hair, nails, teeth, and sweat glands do not develop normally. The hallmark features of HED are reduced ability to sweat (hypohidrosis), sparse and thin hair (hypotrichosis), and missing or abnormally shaped teeth (hypodontia). Because the body cannot sweat properly, people with HED are at serious risk of overheating (hyperthermia), which can be life-threatening
At what age does Hypohidrotic ectodermal dysplasia typically begin?
Typical onset of Hypohidrotic ectodermal dysplasia is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Hypohidrotic ectodermal dysplasia?
13 specialists and care centers treating Hypohidrotic ectodermal dysplasia are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.