Primary failure of tooth eruption

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ORPHA:412206OMIM:125350K00.6
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1Active trials1Specialists8Treatment centers

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What is Primary failure of tooth eruption?

Primary failure of tooth eruption (PFE) is a rare condition where one or more teeth fail to push through the gum and into the mouth properly, even though there is no physical barrier blocking them. Unlike other causes of stuck teeth — such as overcrowding or a cyst — in PFE the tooth's own eruption mechanism simply does not work correctly. This means the tooth stays partially or fully buried in the jawbone. PFE most often affects the back teeth (molars) and tends to get worse over time if not treated. The condition can affect baby teeth, adult teeth, or both. The main signs are teeth that appear missing or only partially visible in the mouth, an uneven bite, and difficulty chewing. Because the affected teeth do not reach the correct height, neighboring and opposing teeth may shift or over-erupt, causing further bite problems. PFE is caused by changes (mutations) in the PTH1R gene, and it follows an autosomal dominant inheritance pattern, meaning one copy of the changed gene is enough to cause the condition. It can run in families or appear for the first time in a person with no family history. Treatment is challenging. Unlike other eruption problems, PFE teeth do not respond to orthodontic forces — trying to pull them into place with braces can actually cause more harm. Management usually involves a team of dental specialists and may include monitoring, dental restorations to build up the height of affected teeth, or in some cases surgical removal and replacement with implants or bridges. Early diagnosis is very important to plan the right treatment and avoid making things worse.

Also known as:

Key symptoms:

One or more teeth that never fully come through the gumTeeth that appear shorter than normal or are missing from the biteUneven bite or difficulty chewingBack teeth (molars) most commonly affectedNeighboring teeth shifting or tilting toward the affected areaOpposing teeth growing too far down because there is no tooth to meet themTeeth that do not move when orthodontic braces or appliances are appliedOpen bite (a gap between upper and lower teeth when the mouth is closed)Both baby and adult teeth can be affected in the same personWorsening of the problem over time without treatment

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 ↗

FDA & Trial Timeline

1 event
Oct 2018Primary Failure of Eruption (PFE) : Highlighting of Clinical, Radiological and Genetic Diagnostic Criteria: Consequences on the Therapeutic Management

University Hospital, Strasbourg, France — NA

TrialRECRUITING

Data is compiled from FDA regulatory filings and ClinicalTrials.gov, then processed through automated extraction; event classifications and dates may occasionally be misclassified. Verify against the linked FDA filing or trial record before clinical decisions. Updated periodically.

Treatments

Source: openFDA + DailyMed · NDA / BLA labels with structured indications · refreshed weekly

No FDA-approved treatments are currently listed for Primary failure of tooth eruption.

1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.

View clinical trials →

Clinical Trials

1 recruitingView all trials with filters →

Source: ClinicalTrials.gov · synced daily · phases, status, and PI names normalized at ingest

N/A1 trial
Primary Failure of Eruption (PFE) : Highlighting of Clinical, Radiological and Genetic Diagnostic Criteria: Consequences on the Therapeutic Management
N/A
Actively Recruiting
PI: Marion STRUB, Doctor · Sites: Strasbourg · Age: 6+ years

Specialists

1 foundView all specialists →

Source: NPI Registry + PubMed · trial PI roles cross-referenced with ClinicalTrials.gov · ranked by match score (publications + PI activity + community signal)

MD
Marion STRUB, Doctor
Strasbourg
Specialist

Rare Disease Specialist

Treatment Centers

8 centers

Source: NORD Rare Disease Centers + NIH Undiagnosed Diseases Network (UDN) · centers verified active within last 12 months

🏨 Children's

Children's Hospital Colorado Rare Disease Program

Children's Hospital Colorado

📍 Aurora, CO

👤 Boston Children's Hospital Rare Disease Program

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Boston Children's Hospital Rare Disease Program

Boston Children's Hospital

📍 Boston, MA

👤 Boston Children's Hospital Rare Disease Program

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

🏨 Children's

Ann & Robert H. Lurie Children's Hospital Genetics

Lurie Children's Hospital

📍 Chicago, IL

👤 Boston Children's Hospital Rare Disease Program

🏥 NORD

Cincinnati Children's Hospital Medical Center

Cincinnati Children's

📍 Cincinnati, OH

👤 Boston Children's Hospital Rare Disease Program

🏨 Children's

Nationwide Children's Hospital Rare Disease Center

Nationwide Children's Hospital

📍 Columbus, OH

👤 Boston Children's Hospital Rare Disease Program

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

Travel Grants

No travel grants are currently matched to Primary failure of tooth eruption.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Primary failure of tooth eruption

Source: PubMed + NIH RePORTER + openFDA + clinical-journal RSS · last 30 days · disease-tagged at ingest by AI extraction with human QC

Disease timeline:

New recruiting trial: Primary Failure of Eruption (PFE) : Highlighting of Clinical, Radiological and Genetic Diagnostic Criteria: Consequences on the Therapeutic Management

A new clinical trial is recruiting patients for Primary failure of tooth eruption

New trial: Primary Failure of Eruption (PFE) : Highlighting of Clinical, Radiological and Genetic Diagnostic Cr

Phase NA trial recruiting. genetic analysis

Caregiver Resources

NORD Caregiver Resources

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Mental Health Support

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Family & Caregiver Grants

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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.Which of my teeth are affected, and how severe is the problem in each one?,Should I have genetic testing for the PTH1R gene, and should my family members be tested too?,What treatments are safe for me, and which ones should I absolutely avoid?,How often do I need dental X-rays to monitor how the condition is progressing?,At what age should we consider surgical options, and what would that involve?,Are there any specialists or centers with specific experience in treating PFE that you would recommend?,What signs should I watch for that would mean the condition is getting worse and needs urgent attention?

Common questions about Primary failure of tooth eruption

What is Primary failure of tooth eruption?

Primary failure of tooth eruption (PFE) is a rare condition where one or more teeth fail to push through the gum and into the mouth properly, even though there is no physical barrier blocking them. Unlike other causes of stuck teeth — such as overcrowding or a cyst — in PFE the tooth's own eruption mechanism simply does not work correctly. This means the tooth stays partially or fully buried in the jawbone. PFE most often affects the back teeth (molars) and tends to get worse over time if not treated. The condition can affect baby teeth, adult teeth, or both. The main signs are teeth that app

How is Primary failure of tooth eruption inherited?

Primary failure of tooth eruption follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Primary failure of tooth eruption typically begin?

Typical onset of Primary failure of tooth eruption is childhood. Age of onset can vary across affected individuals.

Are there clinical trials for Primary failure of tooth eruption?

Yes — 1 recruiting clinical trial is currently listed for Primary failure of tooth eruption on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.

Which specialists treat Primary failure of tooth eruption?

1 specialists and care centers treating Primary failure of tooth eruption are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.

Frequently asked questions about Primary failure of tooth eruption

Auto-generated from canonical disease facts (Orphanet, OMIM, ClinicalTrials.gov, openFDA, NPPES). Not a substitute for clinical guidance.

  1. What is Primary failure of tooth eruption?

    Primary failure of tooth eruption is a rare disease catalogued in international rare-disease ontologies (Orphanet ORPHA:412206, OMIM 125350). It is typically inherited as autosomal dominant. Age of onset is generally childhood. For verified primary sources, see the UniteRare Primary failure of tooth eruption page.

  2. How is Primary failure of tooth eruption inherited?

    Primary failure of tooth eruption follows autosomal dominant inheritance. Genetic counseling is recommended for affected families to understand recurrence risk in offspring and the likelihood of unaffected siblings being carriers. Variants in the underlying gene(s) may be identified via clinical genetic testing.

  3. Are there FDA-approved treatments for Primary failure of tooth eruption?

    Approved treatments for Primary failure of tooth eruption are tracked from openFDA and DailyMed primary sources. Many rare diseases have no specific FDA-approved therapy; for those, supportive care and management of complications form the basis of clinical care. Orphan-drug-designation status is noted where applicable.

  4. Are there clinical trials recruiting for Primary failure of tooth eruption?

    UniteRare currently lists 1 clinical trial relevant to Primary failure of tooth eruption sourced from ClinicalTrials.gov. Each trial entry includes recruitment status, eligibility criteria summary, principal-investigator information, and study locations. Patients should discuss eligibility with their healthcare provider before enrolling.

  5. How do I find a specialist for Primary failure of tooth eruption?

    UniteRare lists 1 verified clinician with documented expertise in Primary failure of tooth eruption, sourced from ClinicalTrials.gov principal-investigator records, PubMed publication histories, and the NPPES NPI registry. Filter by state or browse our state-specific specialist pages for nearby options.

See full Primary failure of tooth eruption page for complete clinical details, sources, and verified-specialist listings.

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