Trichodermodysplasia-dental alterations syndrome

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Overview

Trichodermodysplasia-dental alterations syndrome is an extremely rare genetic condition that affects the hair, skin, and teeth. The name reflects the three main areas of the body involved: 'tricho' refers to hair, 'dermo' refers to skin, and 'dysplasia' means abnormal development. People with this syndrome typically have sparse or abnormal hair, skin changes such as dryness or unusual texture, and dental problems including missing teeth, abnormally shaped teeth, or delayed tooth development. Because this condition is so rare, only a handful of cases have been described in the medical literature, and our understanding of it remains limited. The syndrome is present from birth or early childhood, and the combination of hair, skin, and dental findings is what helps doctors recognize it. The severity of symptoms can vary from person to person. There is currently no cure for this condition, and treatment focuses on managing individual symptoms. This may include dental care such as dentures or implants, skin moisturizers or other dermatological treatments, and supportive care for hair-related concerns. A team of specialists working together is usually needed to provide the best care for affected individuals.

Also known as:

Key symptoms:

Sparse or thin hairAbnormal hair texture or structureDry or rough skinSkin that appears unusual in texture or colorMissing teethAbnormally shaped teethDelayed appearance of teethBrittle or weak nailsReduced sweating in some casesEyebrow or eyelash thinning

Clinical phenotype terms (19)— hover any for plain English
Brittle hairHP:0002299Sparse lateral eyebrowHP:0005338High hypermetropiaHP:0008499Supernumerary toothHP:0011069Adenoma sebaceumHP:0009720Sparse or absent eyelashesHP:0200102
Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Trichodermodysplasia-dental alterations syndrome.

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No actively recruiting trials found for Trichodermodysplasia-dental alterations syndrome at this time.

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Search ClinicalTrials.gov ↗Join the Trichodermodysplasia-dental alterations syndrome community →

No specialists are currently listed for Trichodermodysplasia-dental alterations 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 Trichodermodysplasia-dental alterations syndrome.

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Community

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Latest news about Trichodermodysplasia-dental alterations syndrome

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Caregiver Resources

NORD Caregiver Resources

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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 tests can confirm this diagnosis in my child?,Is genetic testing available, and would it help us understand the cause better?,What dental treatments will my child need, and when should they start?,Are there any skin care products you specifically recommend?,Should we be concerned about any other organs or body systems being affected?,Is there a risk that future children could also have this condition?,Can you refer us to a team of specialists experienced with hair, skin, and dental syndromes?

Common questions about Trichodermodysplasia-dental alterations syndrome

What is Trichodermodysplasia-dental alterations syndrome?

Trichodermodysplasia-dental alterations syndrome is an extremely rare genetic condition that affects the hair, skin, and teeth. The name reflects the three main areas of the body involved: 'tricho' refers to hair, 'dermo' refers to skin, and 'dysplasia' means abnormal development. People with this syndrome typically have sparse or abnormal hair, skin changes such as dryness or unusual texture, and dental problems including missing teeth, abnormally shaped teeth, or delayed tooth development. Because this condition is so rare, only a handful of cases have been described in the medical literatur

How is Trichodermodysplasia-dental alterations syndrome inherited?

Trichodermodysplasia-dental alterations syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Trichodermodysplasia-dental alterations syndrome typically begin?

Typical onset of Trichodermodysplasia-dental alterations syndrome is childhood. Age of onset can vary across affected individuals.