Tricho-retino-dento-digital syndrome

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ORPHA:1264OMIM:191482Q82.4
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8Treatment centers

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Overview

Tricho-retino-dento-digital (TRDD) syndrome is an extremely rare genetic condition that affects multiple body systems, as its name suggests: the hair (tricho), the eyes specifically the retina (retino), the teeth (dento), and the fingers or toes (digital). People with this syndrome typically have sparse or abnormal hair, problems with the light-sensing tissue at the back of the eye (retinal dystrophy or pigmentary retinopathy) that can lead to vision loss, dental abnormalities such as small teeth, missing teeth, or poorly formed enamel, and changes in the fingers or toes such as shortened digits or nail abnormalities. The condition is present from birth or early childhood, and the combination of these features together is what distinguishes it from other similar syndromes. Because TRDD syndrome is so rare, with only a handful of cases described in the medical literature, there is limited information about its full range of symptoms and long-term outcomes. There is currently no cure for this condition. Treatment focuses on managing each symptom individually — for example, corrective dental work, low-vision aids or ophthalmologic care for retinal problems, and dermatologic support for hair and skin concerns. Genetic counseling is recommended for affected families to understand the inheritance pattern and recurrence risk. Early diagnosis through clinical evaluation and genetic testing can help coordinate care across multiple specialists.

Also known as:

Key symptoms:

Sparse or thin hairAbnormal hair texture or slow hair growthProgressive vision loss due to retinal problemsNight blindnessDental abnormalities such as small or missing teethPoorly formed tooth enamelShort fingers or toesNail abnormalitiesSkin changes or drynessSensitivity to light

Clinical phenotype terms (10)— hover any for plain English
Juvenile cataractHP:0001118Uncombable hairHP:0030056Supernumerary toothHP:0011069Short 5th metacarpalHP:0010047
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 Tricho-retino-dento-digital syndrome.

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No actively recruiting trials found for Tricho-retino-dento-digital syndrome at this time.

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No specialists are currently listed for Tricho-retino-dento-digital 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 Tricho-retino-dento-digital syndrome.

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Community

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Latest news about Tricho-retino-dento-digital 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.How will my child's vision be monitored over time, and what signs of worsening should I watch for?,What dental treatments are recommended, and when should they start?,Is genetic testing available to confirm the diagnosis and identify the specific gene involved?,Are there any clinical trials or research studies we could participate in?,What educational or workplace accommodations might be needed for vision problems?,Should other family members be tested or evaluated?,What specialists should be part of our care team, and how often should we see them?

Common questions about Tricho-retino-dento-digital syndrome

What is Tricho-retino-dento-digital syndrome?

Tricho-retino-dento-digital (TRDD) syndrome is an extremely rare genetic condition that affects multiple body systems, as its name suggests: the hair (tricho), the eyes specifically the retina (retino), the teeth (dento), and the fingers or toes (digital). People with this syndrome typically have sparse or abnormal hair, problems with the light-sensing tissue at the back of the eye (retinal dystrophy or pigmentary retinopathy) that can lead to vision loss, dental abnormalities such as small teeth, missing teeth, or poorly formed enamel, and changes in the fingers or toes such as shortened digi

How is Tricho-retino-dento-digital syndrome inherited?

Tricho-retino-dento-digital syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Tricho-retino-dento-digital syndrome typically begin?

Typical onset of Tricho-retino-dento-digital syndrome is childhood. Age of onset can vary across affected individuals.