Trichoodontoonychial dysplasia

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ORPHA:3355OMIM:275450Q82.4
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Overview

Trichoodontoonychial dysplasia, sometimes called tricho-odonto-onychial dysplasia or tricho-dento-osseous-like syndrome, is an extremely rare genetic condition that affects the hair (tricho), teeth (odonto), and nails (onychial). People with this condition typically have sparse, thin, or abnormally textured hair from birth or early childhood. The teeth may be small, poorly formed, discolored, or prone to early decay and loss. The nails can be thin, brittle, ridged, or abnormally shaped. In some cases, mild abnormalities of the sweat glands or skin may also be present, placing this condition within the broader group of ectodermal dysplasias. Ectodermal dysplasias are a family of disorders that affect structures derived from the outer layer of the developing embryo, including hair, teeth, nails, and sweat glands. Because this condition is so rare, with only a handful of cases described in the medical literature, the full range of symptoms and the best approaches to treatment are not completely understood. There is currently no cure for trichoodontoonychial dysplasia. Treatment focuses on managing symptoms: dental care to address tooth abnormalities, dermatological support for hair and nail problems, and monitoring for any associated complications. Early dental intervention and regular follow-up with specialists can significantly improve quality of life. Genetic counseling is recommended for affected families to understand the inheritance pattern and recurrence risk.

Also known as:

Key symptoms:

Thin or sparse hairBrittle or slow-growing hairAbnormally shaped or ridged nailsThin or brittle nailsSmall or malformed teethTooth enamel defectsEarly tooth decay or tooth lossDry skinReduced sweating in some casesFine or wiry hair texture

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 Trichoodontoonychial dysplasia.

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No actively recruiting trials found for Trichoodontoonychial dysplasia at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Trichoodontoonychial dysplasia community →

No specialists are currently listed for Trichoodontoonychial dysplasia.

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 Trichoodontoonychial dysplasia.

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Community

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Latest news about Trichoodontoonychial dysplasia

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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 features of this condition does my child have, and how severe are they?,How often should we schedule dental check-ups and what dental treatments might be needed?,Is genetic testing available to confirm the diagnosis and identify the specific cause?,Are there other family members who should be evaluated?,What can we do to protect and improve hair and nail health?,Are there any signs of reduced sweating, and if so, what precautions should we take?,Can you refer us to a genetic counselor to discuss family planning implications?

Common questions about Trichoodontoonychial dysplasia

What is Trichoodontoonychial dysplasia?

Trichoodontoonychial dysplasia, sometimes called tricho-odonto-onychial dysplasia or tricho-dento-osseous-like syndrome, is an extremely rare genetic condition that affects the hair (tricho), teeth (odonto), and nails (onychial). People with this condition typically have sparse, thin, or abnormally textured hair from birth or early childhood. The teeth may be small, poorly formed, discolored, or prone to early decay and loss. The nails can be thin, brittle, ridged, or abnormally shaped. In some cases, mild abnormalities of the sweat glands or skin may also be present, placing this condition wi

How is Trichoodontoonychial dysplasia inherited?

Trichoodontoonychial dysplasia follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Trichoodontoonychial dysplasia typically begin?

Typical onset of Trichoodontoonychial dysplasia is neonatal. Age of onset can vary across affected individuals.