Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome

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ORPHA:247827OMIM:613576Q82.8
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Overview

Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome is a very rare inherited condition that affects the skin, sweat glands, hair, nails, and the skin between the fingers or toes. 'Ectodermal dysplasia' means that tissues formed from the outer layer of the developing embryo (called the ectoderm) do not develop normally. This leads to a group of problems that can include unusual sweating, fused or webbed skin between fingers or toes (called cutaneous syndactyly), and changes in hair, nails, and teeth. One of the most notable features is hyperhidrosis, which means excessive sweating — the opposite of what is seen in most other ectodermal dysplasia conditions, where sweating is reduced. This makes the syndrome quite distinctive among related disorders. People with this condition may notice symptoms from birth or early infancy, including webbed fingers or toes and abnormal sweating. Skin texture and nail shape may also be affected. Because this syndrome is so rare, there is limited published information about the full range of symptoms and how they change over time. There is currently no cure for this condition. Treatment focuses on managing individual symptoms, such as addressing excessive sweating, providing hand therapy or surgery for syndactyly if it limits function, and monitoring skin and nail health. A team of specialists — including dermatologists, geneticists, and hand surgeons — typically works together to support affected individuals.

Key symptoms:

Excessive sweating (hyperhidrosis), especially on the palms and solesWebbed or fused skin between fingers or toes (cutaneous syndactyly)Abnormal or brittle nailsSparse or thin hairUnusual skin texture or thickeningPossible dental abnormalities such as missing or unusually shaped teethSkin that may be dry or scaly in some areas despite excessive sweating in others

Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome.

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No actively recruiting trials found for Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome at this time.

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No specialists are currently listed for Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly 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 Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome.

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Community

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Latest news about Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly 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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Social Security Disability

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Questions for your doctor

Bring these to your next appointment

  • Q1.What genetic tests should we do to confirm the diagnosis and find the gene responsible?,Should other family members be tested or examined for this condition?,What are the best options for managing my child's excessive sweating?,Does the webbing between the fingers or toes need surgery, and if so, when is the best time?,Are there any specialists or centers with experience in ectodermal dysplasia syndromes that you would recommend?,What should we watch for as my child grows — are there symptoms that might appear later?,Are there any patient support groups or registries for this condition that we could join?

Common questions about Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome

What is Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome?

Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome is a very rare inherited condition that affects the skin, sweat glands, hair, nails, and the skin between the fingers or toes. 'Ectodermal dysplasia' means that tissues formed from the outer layer of the developing embryo (called the ectoderm) do not develop normally. This leads to a group of problems that can include unusual sweating, fused or webbed skin between fingers or toes (called cutaneous syndactyly), and changes in hair, nails, and teeth. One of the most notable features is hyperhidrosis, which means excessive sweating

How is Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome inherited?

Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome typically begin?

Typical onset of Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome is neonatal. Age of onset can vary across affected individuals.