Overview
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome is an extremely rare genetic condition that affects several parts of the body at the same time. The name describes its main features: hypohidrosis means reduced ability to sweat, enamel hypoplasia refers to thin or poorly formed tooth enamel, palmoplantar keratoderma is thickened skin on the palms of the hands and soles of the feet, and intellectual disability means challenges with learning and thinking skills. Because sweating is reduced, people with this condition are at risk of overheating, especially in warm weather or during physical activity. The tooth enamel problems can lead to teeth that look discolored, are more fragile, and are prone to cavities. The thickened skin on the hands and feet can be uncomfortable and may crack or become painful. Intellectual disability can range from mild to more significant, affecting school performance and daily functioning. There is currently no cure for this syndrome. Treatment focuses on managing each symptom individually. This may include strategies to prevent overheating, dental care to protect fragile teeth, skin care for the thickened areas on hands and feet, and educational support and therapies to help with learning and development. Because the condition is so rare, management is typically guided by a team of specialists working together.
Also known as:
Key symptoms:
Reduced or absent sweatingThin or poorly formed tooth enamelThickened skin on palms of handsThickened skin on soles of feetIntellectual disability or learning difficultiesTeeth that look discolored or are easily damagedDry skinDifficulty tolerating heatCracking or peeling skin on hands and feetDelayed developmental milestones
Clinical phenotype terms (16)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome.
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Specialists
View all specialists →No specialists are currently listed for Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability 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 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
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 specific genetic test should we pursue to confirm the diagnosis?,How can we best protect against overheating, and what are the warning signs of heat-related emergencies?,What dental treatments are recommended to protect the teeth long-term?,What skin care routine do you recommend for the thickened skin on hands and feet?,What early intervention or educational support services should we look into?,Are there any clinical trials or research studies we could participate in?,How often should we schedule follow-up visits with each specialist?
Common questions about Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
What is Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome?
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome is an extremely rare genetic condition that affects several parts of the body at the same time. The name describes its main features: hypohidrosis means reduced ability to sweat, enamel hypoplasia refers to thin or poorly formed tooth enamel, palmoplantar keratoderma is thickened skin on the palms of the hands and soles of the feet, and intellectual disability means challenges with learning and thinking skills. Because sweating is reduced, people with this condition are at risk of overheating, especially
How is Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome inherited?
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome typically begin?
Typical onset of Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome is childhood. Age of onset can vary across affected individuals.