Odonto-tricho-ungual-digito-palmar syndrome

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ORPHA:69082OMIM:601957Q82.4
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Overview

Odonto-tricho-ungual-digito-palmar syndrome (sometimes abbreviated as OTUDS) is a very rare inherited condition that affects several parts of the body at the same time, including the teeth, hair, nails, fingers or toes, and the skin of the palms and soles. The name itself describes the main areas involved: 'odonto' means teeth, 'tricho' means hair, 'ungual' means nails, 'digito' means digits (fingers and toes), and 'palmar' refers to the palms. It belongs to a broader group of conditions called ectodermal dysplasias, which are disorders affecting tissues that develop from the outer layer of the embryo. People with this syndrome may be born with missing or unusually shaped teeth, thin or sparse hair, abnormal nails, and differences in the shape of their fingers or toes. The skin on the palms and soles may also be thickened or have an unusual texture. Because so many body systems are involved, a team of different specialists is usually needed to manage the condition. There is currently no cure, but many of the individual symptoms — such as dental problems or nail issues — can be treated to improve comfort and quality of life. Early diagnosis is important so that children can get the right support as they grow.

Also known as:

Key symptoms:

Missing teeth or teeth that are unusually shaped or smallThin, sparse, or slow-growing hairAbnormal or poorly formed fingernails and toenailsUnusual shape or structure of fingers or toesThickened skin on the palms of the hands and soles of the feetDry or fragile skinReduced sweating in some casesNail discoloration or ridging

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 Odonto-tricho-ungual-digito-palmar syndrome.

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No actively recruiting trials found for Odonto-tricho-ungual-digito-palmar syndrome at this time.

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No specialists are currently listed for Odonto-tricho-ungual-digito-palmar 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 Odonto-tricho-ungual-digito-palmar syndrome.

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Community

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Latest news about Odonto-tricho-ungual-digito-palmar 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

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.What genetic tests should we do to confirm the diagnosis and understand the cause?,Which specialists should be part of our care team, and how often should we see each one?,What dental treatments are recommended, and at what age should we start?,Are there any complications we should watch for as my child grows older?,What are the chances that other family members could be affected, and should they be tested?,Are there any clinical trials or research studies we could participate in?,What support resources or patient communities exist for families dealing with ectodermal dysplasia conditions?

Common questions about Odonto-tricho-ungual-digito-palmar syndrome

What is Odonto-tricho-ungual-digito-palmar syndrome?

Odonto-tricho-ungual-digito-palmar syndrome (sometimes abbreviated as OTUDS) is a very rare inherited condition that affects several parts of the body at the same time, including the teeth, hair, nails, fingers or toes, and the skin of the palms and soles. The name itself describes the main areas involved: 'odonto' means teeth, 'tricho' means hair, 'ungual' means nails, 'digito' means digits (fingers and toes), and 'palmar' refers to the palms. It belongs to a broader group of conditions called ectodermal dysplasias, which are disorders affecting tissues that develop from the outer layer of th

How is Odonto-tricho-ungual-digito-palmar syndrome inherited?

Odonto-tricho-ungual-digito-palmar syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Odonto-tricho-ungual-digito-palmar syndrome typically begin?

Typical onset of Odonto-tricho-ungual-digito-palmar syndrome is neonatal. Age of onset can vary across affected individuals.