Hidrotic ectodermal dysplasia, Christianson-Fourie type

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ORPHA:1808OMIM:601375Q82.8
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Overview

Hidrotic ectodermal dysplasia, Christianson-Fourie type, is an extremely rare genetic condition that belongs to a group of disorders called ectodermal dysplasias. These conditions affect the development of structures that come from the outer layer of the embryo (the ectoderm), including hair, nails, teeth, and sweat glands. The term 'hidrotic' means that sweat gland function is generally preserved, so people with this condition can usually sweat normally, unlike some other forms of ectodermal dysplasia. In the Christianson-Fourie type specifically, affected individuals typically show abnormalities of the nails and hair. Nails may be thickened, discolored, or abnormally shaped. Hair can be sparse, thin, or brittle. Teeth may also be affected, with some teeth missing or abnormally formed. The severity of these features can vary from person to person, even within the same family. Because this is such a rare condition, treatment is mainly supportive and focused on managing symptoms. This may include dental care for tooth abnormalities, dermatological care for nail and hair problems, and psychological support for the cosmetic impact of the condition. There is currently no cure, but many individuals can lead relatively normal lives with appropriate care and management.

Also known as:

Key symptoms:

Thickened or abnormally shaped nailsSparse or thin hairBrittle hair that breaks easilyMissing teeth or abnormally shaped teethDiscolored nailsSlow-growing hairDry or rough skin in some areasNormal ability to sweat

Clinical phenotype terms (10)— hover any for plain English
Sparse axillary hairHP:0002215Sparse pubic hairHP:0002225Onychogryphosis of toenailsHP:0008401
Inheritance

Autosomal dominant

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

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Hidrotic ectodermal dysplasia, Christianson-Fourie type.

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No actively recruiting trials found for Hidrotic ectodermal dysplasia, Christianson-Fourie type at this time.

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No specialists are currently listed for Hidrotic ectodermal dysplasia, Christianson-Fourie type.

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 Hidrotic ectodermal dysplasia, Christianson-Fourie type.

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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 type of ectodermal dysplasia does my child have, and how was this determined?,Should we pursue genetic testing, and what would the results mean for our family?,What dental treatments will be needed, and when should they start?,Are there any new treatments or clinical trials available for this condition?,How can we best support our child's emotional well-being related to their appearance?,What is the chance of passing this condition to future children?,How often should we schedule follow-up visits with specialists?

Common questions about Hidrotic ectodermal dysplasia, Christianson-Fourie type

What is Hidrotic ectodermal dysplasia, Christianson-Fourie type?

Hidrotic ectodermal dysplasia, Christianson-Fourie type, is an extremely rare genetic condition that belongs to a group of disorders called ectodermal dysplasias. These conditions affect the development of structures that come from the outer layer of the embryo (the ectoderm), including hair, nails, teeth, and sweat glands. The term 'hidrotic' means that sweat gland function is generally preserved, so people with this condition can usually sweat normally, unlike some other forms of ectodermal dysplasia. In the Christianson-Fourie type specifically, affected individuals typically show abnormal

How is Hidrotic ectodermal dysplasia, Christianson-Fourie type inherited?

Hidrotic ectodermal dysplasia, Christianson-Fourie type follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Hidrotic ectodermal dysplasia, Christianson-Fourie type typically begin?

Typical onset of Hidrotic ectodermal dysplasia, Christianson-Fourie type is childhood. Age of onset can vary across affected individuals.