Curly hair-acral keratoderma-caries syndrome

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ORPHA:307766OMIM:607656Q82.8
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Overview

Curly hair-acral keratoderma-caries syndrome is an extremely rare genetic condition that affects the skin, hair, and teeth. People with this syndrome are born with or develop tightly curled hair, thickened skin on the palms of the hands and soles of the feet (called acral keratoderma), and a high rate of dental cavities (caries). The thickened skin on the hands and feet can sometimes be uncomfortable and may affect grip or walking. The dental problems tend to be severe and can begin early in childhood, often leading to significant tooth decay despite regular dental care. This syndrome falls under the broader group of ectodermal conditions, meaning it affects structures that develop from the outer layer of the embryo, including hair, skin, and teeth. Because it is so rare, there is very limited information about the full range of symptoms and how the condition progresses over time. Treatment is mainly focused on managing symptoms. This includes regular dental care to address cavities, skin care routines and moisturizers or keratolytic agents for the thickened skin, and general supportive measures. There is currently no cure or disease-modifying therapy available. Early recognition and a coordinated care approach involving dermatologists and dentists can help improve quality of life for affected individuals.

Also known as:

Key symptoms:

Tightly curled or woolly hairThickened skin on the palms of the handsThickened skin on the soles of the feetFrequent and severe dental cavitiesEarly tooth decayRough or dry skin on hands and feetDiscomfort or pain when walking due to thick skin on feetPremature loss of teeth

Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Curly hair-acral keratoderma-caries syndrome.

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No actively recruiting trials found for Curly hair-acral keratoderma-caries syndrome at this time.

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No specialists are currently listed for Curly hair-acral keratoderma-caries syndrome.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Curly hair-acral keratoderma-caries syndrome.

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Community

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Latest news about Curly hair-acral keratoderma-caries syndrome

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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 is the best skin care routine for the thickened skin on my child's hands and feet?,How often should dental check-ups be scheduled given the high risk of cavities?,Are there specific toothpastes or fluoride treatments that could help prevent cavities?,Should we pursue genetic testing, and what could it tell us?,Is there a risk that other family members could be affected?,Are there any new treatments or clinical trials for this condition?,What specialists should be part of our care team?

Common questions about Curly hair-acral keratoderma-caries syndrome

What is Curly hair-acral keratoderma-caries syndrome?

Curly hair-acral keratoderma-caries syndrome is an extremely rare genetic condition that affects the skin, hair, and teeth. People with this syndrome are born with or develop tightly curled hair, thickened skin on the palms of the hands and soles of the feet (called acral keratoderma), and a high rate of dental cavities (caries). The thickened skin on the hands and feet can sometimes be uncomfortable and may affect grip or walking. The dental problems tend to be severe and can begin early in childhood, often leading to significant tooth decay despite regular dental care. This syndrome falls u

How is Curly hair-acral keratoderma-caries syndrome inherited?

Curly hair-acral keratoderma-caries syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Curly hair-acral keratoderma-caries syndrome typically begin?

Typical onset of Curly hair-acral keratoderma-caries syndrome is childhood. Age of onset can vary across affected individuals.