Overview
Autosomal recessive hypohidrotic ectodermal dysplasia (also called AR-HED) is a rare genetic condition that affects the development of structures that come from the ectoderm, which is the outer layer of the developing embryo. This includes the skin, hair, nails, teeth, and sweat glands. Because of this, people with AR-HED typically have reduced ability to sweat (hypohidrosis), sparse and thin hair (hypotrichosis), and missing or abnormally shaped teeth (hypodontia or oligodontia). The reduced sweating is particularly important because it can lead to dangerous overheating (hyperthermia), especially in hot weather or during physical activity. The condition is present from birth, and affected babies may have dry, peeling skin and difficulty feeding. As children grow, the distinctive facial features may become more apparent, including a prominent forehead, a flattened bridge of the nose, and full lips. The skin tends to be dry and may appear thin or wrinkled around the eyes. There is currently no cure for AR-HED. Treatment focuses on managing symptoms and preventing complications. This includes protecting against overheating by staying in cool environments, using cooling vests, and monitoring body temperature. Dental treatment is important and often involves dentures, dental implants, or other restorations starting in early childhood. Skin care with moisturizers helps manage dryness. With proper management and awareness of the overheating risk, most individuals with AR-HED can lead full and productive lives.
Also known as:
Key symptoms:
Reduced or absent sweatingThin, sparse, light-colored hair on the scalpMissing teeth or teeth that are small and pointedDry skinOverheating or heat intoleranceSparse or absent eyebrows and eyelashesProminent foreheadFlattened bridge of the noseDark circles or wrinkles around the eyesDry nose and frequent nosebleedsDry eyesHoarse voiceFrequent respiratory infectionsThin, brittle nailsDifficulty feeding in infancy
Clinical phenotype terms (10)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Autosomal recessive hypohidrotic ectodermal dysplasia.
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Specialists
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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 Autosomal recessive hypohidrotic ectodermal dysplasia.
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Caregiver Resources
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Social Security Disability
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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 should I do if their temperature gets too high?,When should we start dental treatment, and what options are available as my child grows?,Are there any clinical trials or new treatments being studied for this condition?,What school accommodations should I request for my child?,How often should we see each specialist, and what routine monitoring is recommended?,Should other family members be tested to see if they are carriers?,Are there any signs of complications I should watch for as my child gets older?
Common questions about Autosomal recessive hypohidrotic ectodermal dysplasia
What is Autosomal recessive hypohidrotic ectodermal dysplasia?
Autosomal recessive hypohidrotic ectodermal dysplasia (also called AR-HED) is a rare genetic condition that affects the development of structures that come from the ectoderm, which is the outer layer of the developing embryo. This includes the skin, hair, nails, teeth, and sweat glands. Because of this, people with AR-HED typically have reduced ability to sweat (hypohidrosis), sparse and thin hair (hypotrichosis), and missing or abnormally shaped teeth (hypodontia or oligodontia). The reduced sweating is particularly important because it can lead to dangerous overheating (hyperthermia), especi
How is Autosomal recessive hypohidrotic ectodermal dysplasia inherited?
Autosomal recessive hypohidrotic ectodermal dysplasia follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autosomal recessive hypohidrotic ectodermal dysplasia typically begin?
Typical onset of Autosomal recessive hypohidrotic ectodermal dysplasia is neonatal. Age of onset can vary across affected individuals.