Periodontal Ehlers-Danlos syndrome

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ORPHA:75392OMIM:617174Q79.6
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5Active trials16Specialists8Treatment centers

Where are you in your journey?

UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Periodontal Ehlers-Danlos syndrome (pEDS), also known as EDS type VIII or periodontitis-type EDS, is a rare inherited connective tissue disorder. Connective tissue is the body's structural 'glue' that holds skin, joints, blood vessels, and other tissues together. In pEDS, a genetic change causes this tissue to be weaker than normal, leading to a unique combination of problems affecting the gums, skin, and joints. The most striking feature of pEDS is severe gum (periodontal) disease that starts in childhood or early adulthood. This gum disease is much worse than typical gum disease and leads to early tooth loss, often before age 30. The skin in pEDS tends to bruise very easily, may look thin or slightly see-through, and can have a pretibial (shin area) discoloration or scarring. Joints may be mildly loose or hypermobile, and wounds may heal with unusual scars. There is currently no cure for pEDS. Treatment focuses on managing symptoms, especially through intensive dental and gum care to slow tooth loss, protecting the skin from injury, and monitoring joint health. A team of specialists including dentists, periodontists, and geneticists is usually needed. Early diagnosis is very important because aggressive dental care from a young age can help preserve teeth longer and improve quality of life.

Also known as:

Key symptoms:

Severe gum disease starting in childhood or teenage yearsEarly tooth loss, often before age 30Skin that bruises very easilyThin or slightly see-through skinBrownish or reddish skin discoloration on the shins (pretibial area)Unusual or wide scars after skin injuriesMildly loose or flexible jointsFragile gum tissue that bleeds easilyReceding gumsSlow or poor wound healing

Clinical phenotype terms (12)— hover any for plain English
PeriodontitisHP:0000704Atrophy of alveolar ridgesHP:0006308Agenesis of permanent teethHP:0006349Premature loss of primary teethHP:0006323
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

10 events
Apr 2026Video Inspired Discussions About Ethical Outcomes in Pediatrics

Massachusetts General Hospital — NA

TrialNOT YET RECRUITING
Jun 2025Anterior Femoral and Adductor Canal Nerve Blocks in Peds Knees

Hospital for Special Surgery, New York — PHASE4

TrialRECRUITING
Jan 2025A Study of Dulaglutide (LY2189265) 3.0 mg and 4.5 mg in Pediatric Participants With Type 2 Diabetes Mellitus (AWARD-PEDS PLUS)

Eli Lilly and Company — PHASE3

TrialRECRUITING
Nov 2024Cranial Ultrasound for Point of Care Intracranial Pathology Detection in Pediatrics

Wake Forest University Health Sciences

TrialRECRUITING
Sep 2024CBT for Muscle Dysmorphia and Steroid Abuse: A Randomized Controlled Trial

Uskudar University — NA

TrialACTIVE NOT RECRUITING
Sep 2023Low Systemic/High Local Exercise Load in Peds SCD

University of Mississippi Medical Center — NA

TrialRECRUITING
Apr 2023Distal Radius Interventions for Fracture Treatment

Ann & Robert H Lurie Children's Hospital of Chicago — NA

TrialRECRUITING
Mar 2022EPIC-Peds: A Study to Learn About the Study Medicine Called PF-07321332 (Nirmatrelvir)/Ritonavir in Patients Under 18 Years of Age With COVID-19 That Are Not Hospitalized But Are at Risk for Severe Disease

Pfizer — PHASE3

TrialRECRUITING
Mar 2021Continuous vs Intermittent Ketorolac for Pain Control in Peds CV Surgery

Phoenix Children's Hospital — PHASE4

TrialRECRUITING
Jun 2020A Study of Facilitators and Barriers to Improve Acute Kidney Injury in Children Through Mobile Health Intervention

Duke University — NA

TrialRECRUITING

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

Treatments

No FDA-approved treatments are currently listed for Periodontal Ehlers-Danlos syndrome.

5 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.

View clinical trials →

Clinical Trials

5 recruitingView all trials with filters →
Phase 32 trials
A Study of Dulaglutide (LY2189265) 3.0 mg and 4.5 mg in Pediatric Participants With Type 2 Diabetes Mellitus (AWARD-PEDS PLUS)
Phase 3
Actively Recruiting
PI: Call 1-877-CTLILLY (1-877-285-4559) or 1-317-615-4559 Mon - Fri 8 AM - 8 PM Eastern time (UTC/GMT - 5 hours, EST) (Eli Lilly and Company) · Sites: Tucson, Arizona; Little Rock, Arkansas +49 more · Age: 1017 yrs
EPIC-Peds: A Study to Learn About the Study Medicine Called PF-07321332 (Nirmatrelvir)/Ritonavir in Patients Under 18 Years of Age With COVID-19 That Are Not Hospitalized But Are at Risk for Severe Disease
Phase 3
Actively Recruiting
PI: Pfizer CT.gov Call Center (Pfizer) · Sites: Phoenix, Arizona; Los Angeles, California +71 more · Age: 017 yrs
Phase 42 trials
Continuous vs Intermittent Ketorolac for Pain Control in Peds CV Surgery
Phase 4
Actively Recruiting
PI: Kevin Engelhardt, MD (Heart Center) · Sites: Phoenix, Arizona
Anterior Femoral and Adductor Canal Nerve Blocks in Peds Knees
Phase 4
Actively Recruiting
PI: Kathryn DelPizzo, MD (Hospital for Special Surgery, New York) · Sites: New York, New York · Age: 818 yrs
N/A1 trial
Low Systemic/High Local Exercise Load in Peds SCD
N/A
Actively Recruiting
PI: Yolanda Griffin (Director-Clinical Trials Office) · Sites: Jackson, Mississippi · Age: 1217 yrs

Specialists

16 foundView all specialists →
JH
J Harris
Specialist
1 Periodontal Ehlers-Danlos syndrome publication
JZ
Johannes Zschocke
Specialist
2 Periodontal Ehlers-Danlos syndrome publications
IK
Ines Kapferer-Seebacher
Specialist
2 Periodontal Ehlers-Danlos syndrome publications
RW
Reena Wadia
Specialist
1 Periodontal Ehlers-Danlos syndrome publication
CA
C Angwin
Specialist
1 Periodontal Ehlers-Danlos syndrome publication
JZ
J Zschocke
Specialist
1 Periodontal Ehlers-Danlos syndrome publication
TK
T Kammin
Specialist
1 Periodontal Ehlers-Danlos syndrome publication
EB
E Björck
Specialist
1 Periodontal Ehlers-Danlos syndrome publication
JB
J Bowen
Specialist
1 Periodontal Ehlers-Danlos syndrome publication
AB
A F Brady
Specialist
1 Periodontal Ehlers-Danlos syndrome publication
HB
H Burns
Specialist
1 Periodontal Ehlers-Danlos syndrome publication
CC
C Cummings
Specialist
1 Periodontal Ehlers-Danlos syndrome publication
RG
R Gardner
Specialist
1 Periodontal Ehlers-Danlos syndrome publication
NG
N Ghali
Specialist
1 Periodontal Ehlers-Danlos syndrome publication
RG
R Gröbner
Specialist
1 Periodontal Ehlers-Danlos syndrome publication
ND
Niki M Moutsopoulos, D.D.S.
Bethesda, Maryland
Specialist

Rare Disease Specialist

Treatment Centers

8 centers
⚗️ Trial Site

National Institutes of Health Clinical Center

📍 Bethesda, Maryland

👤 Payal P Khincha, M.D.

👤 Christopher Grunseich, M.D.

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🔬 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

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

Travel Grants

No travel grants are currently matched to Periodontal Ehlers-Danlos syndrome.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Periodontal Ehlers-Danlos syndrome

Disease timeline:

New recruiting trial: EPIC-Peds: A Study to Learn About the Study Medicine Called PF-07321332 (Nirmatrelvir)/Ritonavir in Patients Under 18 Years of Age With COVID-19 That Are Not Hospitalized But Are at Risk for Severe Disease

A new clinical trial is recruiting patients for Periodontal Ehlers-Danlos syndrome

New recruiting trial: Continuous vs Intermittent Ketorolac for Pain Control in Peds CV Surgery

A new clinical trial is recruiting patients for Periodontal Ehlers-Danlos syndrome

New recruiting trial: A Study of Dulaglutide (LY2189265) 3.0 mg and 4.5 mg in Pediatric Participants With Type 2 Diabetes Mellitus (AWARD-PEDS PLUS)

A new clinical trial is recruiting patients for Periodontal Ehlers-Danlos syndrome

New recruiting trial: Distal Radius Interventions for Fracture Treatment

A new clinical trial is recruiting patients for Periodontal Ehlers-Danlos syndrome

New recruiting trial: Low Systemic/High Local Exercise Load in Peds SCD

A new clinical trial is recruiting patients for Periodontal Ehlers-Danlos syndrome

New recruiting trial: Anterior Femoral and Adductor Canal Nerve Blocks in Peds Knees

A new clinical trial is recruiting patients for Periodontal Ehlers-Danlos syndrome

New recruiting trial: Streamlined Treatment of Pulmonary Exacerbations in Pediatrics

A new clinical trial is recruiting patients for Periodontal Ehlers-Danlos syndrome

New recruiting trial: Cranial Ultrasound for Point of Care Intracranial Pathology Detection in Pediatrics

A new clinical trial is recruiting patients for Periodontal Ehlers-Danlos syndrome

New recruiting trial: A Study of Facilitators and Barriers to Improve Acute Kidney Injury in Children Through Mobile Health Intervention

A new clinical trial is recruiting patients for Periodontal Ehlers-Danlos syndrome

New trial: Oral Bacteria and Immune System Problems Involved in Gum Disease (Periodontitis)

Phase NA trial recruiting.

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 genes should be tested to confirm my diagnosis, and how long will results take?,How often should I see a periodontist, and what type of gum treatments are most important for me?,Are there any specific dental products or routines you recommend to help protect my teeth?,What signs should prompt me to seek urgent dental or medical care?,Should my children or other family members be tested for this condition?,Are there any clinical trials or research studies I could participate in?,What other specialists should be part of my care team?

Common questions about Periodontal Ehlers-Danlos syndrome

What is Periodontal Ehlers-Danlos syndrome?

Periodontal Ehlers-Danlos syndrome (pEDS), also known as EDS type VIII or periodontitis-type EDS, is a rare inherited connective tissue disorder. Connective tissue is the body's structural 'glue' that holds skin, joints, blood vessels, and other tissues together. In pEDS, a genetic change causes this tissue to be weaker than normal, leading to a unique combination of problems affecting the gums, skin, and joints. The most striking feature of pEDS is severe gum (periodontal) disease that starts in childhood or early adulthood. This gum disease is much worse than typical gum disease and leads t

How is Periodontal Ehlers-Danlos syndrome inherited?

Periodontal Ehlers-Danlos syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Periodontal Ehlers-Danlos syndrome typically begin?

Typical onset of Periodontal Ehlers-Danlos syndrome is childhood. Age of onset can vary across affected individuals.

Are there clinical trials for Periodontal Ehlers-Danlos syndrome?

Yes — 5 recruiting clinical trials are currently listed for Periodontal Ehlers-Danlos syndrome on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.

Which specialists treat Periodontal Ehlers-Danlos syndrome?

16 specialists and care centers treating Periodontal Ehlers-Danlos syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.