Hypermobile Ehlers-Danlos syndrome

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ORPHA:285OMIM:130020Q79.6
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3Active trials15Specialists8Treatment centers

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

Hypermobile Ehlers-Danlos syndrome (hEDS), formerly known as Ehlers-Danlos syndrome hypermobility type or EDS type III, is the most common subtype of Ehlers-Danlos syndrome, a group of heritable connective tissue disorders. It is characterized by generalized joint hypermobility, joint instability with recurrent subluxations and dislocations, chronic musculoskeletal pain, and skin involvement that is typically softer and more extensible than normal but less fragile than in other EDS subtypes. Unlike most other forms of EDS, the genetic basis of hEDS has not yet been identified, and diagnosis relies on clinical criteria established in the 2017 international classification. The condition affects multiple body systems beyond the musculoskeletal system. Patients frequently experience chronic widespread pain, fatigue, and functional gastrointestinal disorders such as gastroesophageal reflux, dyspepsia, and irritable bowel-like symptoms. Cardiovascular manifestations may include mitral valve prolapse and orthostatic intolerance, including postural orthostatic tachycardia syndrome (POTS). Pelvic floor dysfunction, easy bruising, and anxiety disorders are also commonly reported. Many patients experience significant impairment in quality of life and daily functioning. There is currently no cure or disease-modifying therapy for hEDS. Management is multidisciplinary and focuses on symptom relief and prevention of complications. Physical therapy emphasizing joint stabilization and proprioceptive training is a cornerstone of treatment. Pain management may involve pharmacological and non-pharmacological approaches. Occupational therapy, bracing, and lifestyle modifications help maintain function. Associated conditions such as POTS, gastrointestinal symptoms, and psychological comorbidities are managed individually. Genetic counseling is recommended for affected families, though the specific gene(s) responsible remain unknown.

Also known as:

Clinical phenotype terms— hover any for plain English:

AcrocyanosisHP:0001063Soft skinHP:0000977
Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗OMIM ↗NORD ↗

FDA & Trial Timeline

3 events
Nov 2024Out of State - tAN hEDS

Medical University of South Carolina — NA

TrialACTIVE NOT RECRUITING
Feb 2023TMD-specific Physiotherapy in hEDS Patients Individuals With Hypermobile Ehlers-Danlos Syndrome

University Hospital Muenster — NA

TrialENROLLING BY INVITATION
Apr 2021Auricular Vagal Nerve Stimulation for Hypermobile Ehlers-Danlos Syndrome

Medical College of Wisconsin — NA

TrialRECRUITING

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

Treatments

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

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

View clinical trials →

Clinical Trials

3 recruitingView all trials with filters →
N/A3 trials
Out of State - tAN hEDS
N/A
Active
PI: Jeffrey Borckardt, PhD (Medical University of South Carolina) · Sites: Charleston, South Carolina · Age: 1865 yrs
Auricular Vagal Nerve Stimulation for Hypermobile Ehlers-Danlos Syndrome
N/A
Actively Recruiting
PI: Katja Karrento, MD (Medical College of Wisconsin) · Sites: Milwaukee, Wisconsin · Age: 1018 yrs
TMD-specific Physiotherapy in hEDS Patients Individuals With Hypermobile Ehlers-Danlos Syndrome
N/A
Enrolling by Invitation
PI: Ole Oelerich, Dr. med. dent. (Department for Prosthodonctics and Biomaterials, U) · Sites: Münster · Age: 1899 yrs

Specialists

15 foundView all specialists →
LR
Leslie N. Russek
POTSDAM, NY
Specialist
PI on 1 active trial
CM
Cyrille Bergoin, MD
Specialist
PI on 1 active trial
EM
Emmanuelle CHALEAT-VALAYER, MD
Specialist
PI on 1 active trial
HR
Helena Romero
DORCHESTER, MA
Specialist
PI on 1 active trial2 Hypermobile Ehlers-Danlos syndrome publications
PP
Patrick Mucci, Prof.
Specialist
PI on 1 active trial
OD
Ole Oelerich, Dr. med. dent.
Münster
Specialist

Rare Disease Specialist

MP
Mari Lundberg, Professor
MINNEAPOLIS, MN
Specialist
PI on 1 active trial1 Hypermobile Ehlers-Danlos syndrome publication
KM
Katja Karrento, MD
Milwaukee, Wisconsin
Specialist

Rare Disease Specialist

PI on 2 active trials
PD
Philip Noto, DO
OLD WESTBURY, NY
Specialist
PI on 1 active trial3 Hypermobile Ehlers-Danlos syndrome publications
JP
Jeffrey Borckardt, PhD
Charleston, South Carolina
Specialist

Rare Disease Specialist

PI on 1 active trial
AM
Andrea Maier
Aachen, North Rhine-Westphalia
Specialist

Rare Disease Specialist

PI on 1 active trial10 Hypermobile Ehlers-Danlos syndrome publications
CM
Carlos Rafael Ramirez Paesano, MD
Specialist
PI on 1 active trial
DP
Dmitry Rozenberg, MD, PhD
Specialist
PI on 1 active trial
SM
Sandrine TOUZET, MD
Specialist
PI on 2 active trials
JM
Juliette CARON, Md
Specialist
PI on 1 active trial

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 Hypermobile Ehlers-Danlos syndrome.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Hypermobile Ehlers-Danlos syndrome

Disease timeline:

New trial: Out of State - tAN hEDS

Phase NA trial recruiting. Transcutaneous Auricular Neurostimulation

New trial: TMD-specific Physiotherapy in hEDS Patients Individuals With Hypermobile Ehlers-Danlos Syndrome

Phase NA trial recruiting. Physiotherapy

New trial: Auricular Vagal Nerve Stimulation for Hypermobile Ehlers-Danlos Syndrome

Phase NA trial recruiting. Percutaneous vagal nerve stimulation (pVNS) device

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.

Common questions about Hypermobile Ehlers-Danlos syndrome

What is Hypermobile Ehlers-Danlos syndrome?

Hypermobile Ehlers-Danlos syndrome (hEDS), formerly known as Ehlers-Danlos syndrome hypermobility type or EDS type III, is the most common subtype of Ehlers-Danlos syndrome, a group of heritable connective tissue disorders. It is characterized by generalized joint hypermobility, joint instability with recurrent subluxations and dislocations, chronic musculoskeletal pain, and skin involvement that is typically softer and more extensible than normal but less fragile than in other EDS subtypes. Unlike most other forms of EDS, the genetic basis of hEDS has not yet been identified, and diagnosis re

How is Hypermobile Ehlers-Danlos syndrome inherited?

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

Are there clinical trials for Hypermobile Ehlers-Danlos syndrome?

Yes — 3 recruiting clinical trials are currently listed for Hypermobile 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 Hypermobile Ehlers-Danlos syndrome?

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