Overview
Autosomal dominant hypohidrotic ectodermal dysplasia (also called autosomal dominant anhidrotic ectodermal dysplasia) is a rare genetic condition that affects the development of structures that come from the ectoderm — the outer layer of the embryo. This means it primarily impacts the skin, hair, nails, teeth, and sweat glands. People with this condition typically have fewer sweat glands than normal or sweat glands that do not work properly, which makes it difficult for the body to cool itself through sweating. This can lead to dangerous overheating (hyperthermia), especially during hot weather, exercise, or fever. Key symptoms include sparse and thin hair on the scalp and body, missing or abnormally shaped teeth (often cone-shaped or pointed), dry skin, and reduced ability to sweat. The facial features may also be distinctive, with a prominent forehead, a flattened bridge of the nose, and darker skin around the eyes. Because this form is autosomal dominant, only one copy of the changed gene is needed to cause the condition, and an affected parent has a 50% chance of passing it to each child. There is currently no cure for this condition. Treatment focuses on managing symptoms: dental work to replace missing teeth, skin moisturizers for dryness, wigs for hair loss, and careful temperature management to prevent overheating. Early diagnosis and a coordinated care team can significantly improve quality of life.
Also known as:
Key symptoms:
Reduced or absent sweatingOverheating or heat intoleranceSparse, thin, or light-colored hair on the scalpMissing teeth or fewer teeth than normalCone-shaped or pointed teethDry skinThin or sparse eyebrows and eyelashesProminent foreheadFlattened bridge of the noseDark circles or skin around the eyesDry or crusty nose due to reduced nasal gland secretionsThin or brittle nailsFrequent respiratory infectionsDry eyes or reduced tearing
Clinical phenotype terms (15)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
FDA & Trial Timeline
1 eventUniversity of Pittsburgh — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Autosomal dominant hypohidrotic ectodermal dysplasia.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Autosomal dominant hypohidrotic ectodermal dysplasia at this time.
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Rare Disease Specialist
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 Autosomal dominant hypohidrotic ectodermal dysplasia.
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Start the conversation →Latest news about Autosomal dominant hypohidrotic ectodermal dysplasia
Disease timeline:
New trial: Moms Managing Attention-Deficit/Hyperactivity Disorder (ADHD) Study
Phase NA trial recruiting. MomMA Intervention
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Questions for your doctor
Bring these to your next appointment
- Q1.How can I best protect my child from overheating, and what are the warning signs of heat-related emergencies?,At what age should dental treatment begin, and what are the best options for replacing missing teeth?,Should other family members be tested for this condition?,Are there any clinical trials or new treatments being studied for this form of ectodermal dysplasia?,What school accommodations should I request for my child?,How often should we see each specialist, and who should coordinate care?,Are there any complications I should watch for as my child grows older?
Common questions about Autosomal dominant hypohidrotic ectodermal dysplasia
What is Autosomal dominant hypohidrotic ectodermal dysplasia?
Autosomal dominant hypohidrotic ectodermal dysplasia (also called autosomal dominant anhidrotic ectodermal dysplasia) is a rare genetic condition that affects the development of structures that come from the ectoderm — the outer layer of the embryo. This means it primarily impacts the skin, hair, nails, teeth, and sweat glands. People with this condition typically have fewer sweat glands than normal or sweat glands that do not work properly, which makes it difficult for the body to cool itself through sweating. This can lead to dangerous overheating (hyperthermia), especially during hot weathe
How is Autosomal dominant hypohidrotic ectodermal dysplasia inherited?
Autosomal dominant hypohidrotic ectodermal dysplasia follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autosomal dominant hypohidrotic ectodermal dysplasia typically begin?
Typical onset of Autosomal dominant hypohidrotic ectodermal dysplasia is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Autosomal dominant hypohidrotic ectodermal dysplasia?
1 specialists and care centers treating Autosomal dominant hypohidrotic ectodermal dysplasia are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.