Overview
Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome is an extremely rare genetic condition that affects multiple body systems at once. It is sometimes referred to by its Orphanet designation (ORPHA:1882) and combines three main problems: ectodermal dysplasia, an underactive thyroid gland, and abnormal function of tiny hair-like structures called cilia that line the airways and other organs. Ectodermal dysplasia means that structures that develop from the outer layer of the embryo — such as skin, hair, nails, teeth, and sweat glands — do not form properly. People with this condition often have thin or sparse hair, missing or abnormally shaped teeth, and reduced ability to sweat (hypohidrosis), which can make it hard to regulate body temperature. Hypothyroidism means the thyroid gland does not produce enough hormones, which can lead to fatigue, weight gain, dry skin, and slowed growth or development in children. Ciliary dyskinesia causes the cilia in the lungs and sinuses to move poorly or not at all, leading to chronic respiratory infections, sinusitis, and sometimes bronchiectasis (permanent widening of the airways). Because this syndrome affects so many body systems, treatment is supportive and involves managing each component separately. There is no single cure, but early diagnosis and coordinated care from multiple specialists can significantly improve quality of life. Thyroid hormone replacement, respiratory therapies, dental care, and strategies to prevent overheating are all important parts of management.
Also known as:
Key symptoms:
Thin or sparse hairMissing or abnormally shaped teethReduced or absent sweatingDifficulty tolerating heatDry skinChronic sinus infectionsChronic lung infectionsPersistent cough with mucusFatigue and low energy from underactive thyroidSlow growth or short statureWeight gain or difficulty losing weightConstipationNasal congestion that does not go awayRecurrent ear infectionsBrittle or abnormal nails
Clinical phenotype terms (15)— 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)
FDA & Trial Timeline
3 eventsFundación EPIC — NA
Tongji Hospital — NA
University of Manchester
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome at this time.
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Specialists
View all specialists →No specialists are currently listed for Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome.
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-hypothyroidism-ciliary dyskinesia syndrome.
Community
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Start the conversation →Latest news about Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
Disease timeline:
New recruiting trial: HIV and Changes in the Gut Microbiome After Changes in Antiretroviral Therapy (ART)
A new clinical trial is recruiting patients for Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
New recruiting trial: Comparison of a Contemporary Sirolimus-eluting Stent (ihtDEStiny®) With Another Everolimus-eluting Stent (Xience™), Both With Permanent Polymers, in Patients With Acute Coronary Syndrome and de Novo Coronary Artery Lesions
A new clinical trial is recruiting patients for Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
New recruiting trial: Intraoperative Paravertebral Block and Postoperative Complications
A new clinical trial is recruiting patients for Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
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 will each part of this syndrome be monitored and how often should we have check-ups?,What is the best way to manage my child's inability to sweat, especially at school or during sports?,Is genetic testing available to confirm the diagnosis, and should other family members be tested?,What airway clearance techniques do you recommend, and how often should they be done?,How will we know if the thyroid medication dose needs to be adjusted?,What signs of a respiratory infection should prompt us to seek urgent care?,Are there any clinical trials or research studies we could participate in?
Common questions about Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
What is Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome?
Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome is an extremely rare genetic condition that affects multiple body systems at once. It is sometimes referred to by its Orphanet designation (ORPHA:1882) and combines three main problems: ectodermal dysplasia, an underactive thyroid gland, and abnormal function of tiny hair-like structures called cilia that line the airways and other organs. Ectodermal dysplasia means that structures that develop from the outer layer of the embryo — such as skin, hair, nails, teeth, and sweat glands — do not form properly. People with
How is Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome inherited?
Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome typically begin?
Typical onset of Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome is neonatal. Age of onset can vary across affected individuals.