Dentinogenesis imperfecta

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Overview

Dentinogenesis imperfecta (DGI) is a rare inherited condition that affects the development of dentin, which is the hard tissue that makes up most of a tooth beneath the enamel. People with this condition have teeth that are weaker than normal, making them more likely to wear down, chip, or break easily. The condition affects both baby teeth and adult teeth. You may also hear it called 'hereditary opalescent dentin' because the teeth often have a distinctive bluish-gray, amber, or brownish color and a translucent or opalescent (pearly) appearance. Dentinogenesis imperfecta is divided into three types (Type I, II, and III). Type I occurs in people who also have osteogenesis imperfecta (brittle bone disease). Types II and III affect only the teeth. In all types, the dentin does not form properly, which weakens the teeth from the inside. The enamel on top can crack and peel away more easily, leaving the softer dentin exposed and vulnerable to rapid wear. The main goal of treatment is to protect the teeth, reduce pain, and maintain normal chewing function and appearance. Dentists and specialists use crowns, veneers, dentures, and other dental restorations to cover and protect affected teeth. While there is no cure, early and ongoing dental care can greatly improve quality of life and help preserve teeth for as long as possible.

Also known as:

Key symptoms:

Teeth that appear bluish-gray, amber, brown, or translucentTeeth that wear down, chip, or break more easily than normalEnamel that cracks and peels away from the tooth surfaceTooth sensitivity to hot, cold, or sweet foods and drinksTeeth that look shorter than normal due to wearPain or discomfort when chewingIncreased risk of tooth decay and cavitiesTeeth that may loosen or fall out earlier than expectedAbnormal tooth shape or sizeIn Type I, symptoms of osteogenesis imperfecta such as fragile bones and blue-tinted whites of the eyes

Clinical phenotype terms (21)— hover any for plain English
Pulp obliterationHP:0006350Abnormal dental root morphologyHP:0006486Grayish enamelHP:0000683OdontodysplasiaHP:0000694Generalized hypoplasia of dental enamelHP:0006282Yellow-brown discoloration of the teethHP:0006286Abnormal dental pulp morphologyHP:0006479Abnormal dentin morphologyHP:0010299Hypocalcification of dental enamelHP:0011084Fragile teethHP:0025124Selective tooth agenesisHP:0001592Finger joint hypermobilityHP:0006094Persistence of primary teethHP:0006335Short dental rootHP:0006336Hyperextensibility at elbowHP:0010485Knee joint hypermobilityHP:0045086
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 ↗NORD ↗

FDA & Trial Timeline

1 event
Jan 2025DG1 Spectacle Lens for Myopia Progression Control in Children

HOYA Lens Thailand LTD. — NA

TrialRECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

No FDA-approved treatments are currently listed for Dentinogenesis imperfecta.

View clinical trials →

No actively recruiting trials found for Dentinogenesis imperfecta at this time.

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

Search ClinicalTrials.gov ↗Join the Dentinogenesis imperfecta community →

Specialists

1 foundView all specialists →
FV
Frédéric VAYSSE
Specialist
PI on 1 active trial2 Dentinogenesis imperfecta publications

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 Dentinogenesis imperfecta.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Dentinogenesis imperfecta

Disease timeline:

New recruiting trial: DG1 Spectacle Lens for Myopia Progression Control in Children

A new clinical trial is recruiting patients for Dentinogenesis imperfecta

Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

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.Which type of dentinogenesis imperfecta does my child or I have, and what does that mean for treatment?,Should I have genetic testing, and should other family members be tested as well?,What is the best dental treatment plan for protecting my teeth at this stage?,How often should we have dental check-ups, and what specialists should be involved in care?,Are there any dietary or lifestyle changes I should make to protect my teeth?,What signs of complications should I watch for and when should I seek urgent dental care?,Are there any clinical trials or new treatments being studied for this condition?

Common questions about Dentinogenesis imperfecta

What is Dentinogenesis imperfecta?

Dentinogenesis imperfecta (DGI) is a rare inherited condition that affects the development of dentin, which is the hard tissue that makes up most of a tooth beneath the enamel. People with this condition have teeth that are weaker than normal, making them more likely to wear down, chip, or break easily. The condition affects both baby teeth and adult teeth. You may also hear it called 'hereditary opalescent dentin' because the teeth often have a distinctive bluish-gray, amber, or brownish color and a translucent or opalescent (pearly) appearance. Dentinogenesis imperfecta is divided into thre

How is Dentinogenesis imperfecta inherited?

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

At what age does Dentinogenesis imperfecta typically begin?

Typical onset of Dentinogenesis imperfecta is childhood. Age of onset can vary across affected individuals.

Which specialists treat Dentinogenesis imperfecta?

1 specialists and care centers treating Dentinogenesis imperfecta are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.