Genetic progeroid syndrome

Last reviewed

🖨 Print for my doctorAdvocacy Hub →
ORPHA:363245
Who is this for?
Show terms as
4Specialists8Treatment centers

Where are you in your journey?

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

Overview

Genetic progeroid syndromes are a group of rare inherited conditions that cause the body to age much faster than normal. The word 'progeroid' comes from the Greek word for 'prematurely old.' People with these syndromes develop features that look like accelerated aging, often starting in childhood or early adulthood. These features can include hair loss, thin or wrinkled skin, loss of fat under the skin, joint stiffness, and problems with bones, the heart, and blood vessels. This Orphanet category (ORPHA:363245) serves as an umbrella grouping for several specific progeroid conditions, including Hutchinson-Gilford progeria syndrome, Werner syndrome, Cockayne syndrome, and others. Each specific syndrome has its own genetic cause, but they share the common theme of premature aging affecting multiple body systems. There is currently no cure for most genetic progeroid syndromes. Treatment focuses on managing symptoms and preventing complications, especially heart and blood vessel problems, which are often the most serious concern. Some conditions within this group have specific treatments — for example, lonafarnib (Zokinvy) was approved by the FDA for Hutchinson-Gilford progeria syndrome. Research into the biology of aging continues to offer hope for new therapies. Early diagnosis and a team of specialists working together can help improve quality of life and outcomes for affected individuals.

Key symptoms:

Premature aging appearanceHair loss or thinning hairThin, wrinkled, or tight skinLoss of body fat under the skinShort stature or growth failureJoint stiffness or limited joint movementWeak or brittle bonesHeart disease or hardening of the arteriesHigh-pitched voiceDental problems or delayed tooth developmentVision problems such as cataractsHearing lossInsulin resistance or diabetesMuscle weakness or wastingFragile blood vessels

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Genetic progeroid syndrome.

View clinical trials →

No actively recruiting trials found for Genetic progeroid syndrome at this time.

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

Search ClinicalTrials.gov ↗Join the Genetic progeroid syndrome community →

Specialists

4 foundView all specialists →
AM
Adeline Vanderver, MD
Los Angeles, California
Specialist

Rare Disease Specialist

PI on 4 active trials1 Genetic progeroid syndrome publication
MM
Michael R Sargen, M.D.
PHILADELPHIA, PA
Specialist
PI on 2 active trials
PM
Peter Kang, MD
Minneapolis, Minnesota
Specialist

Rare Disease Specialist

PI on 2 active trials

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 Genetic progeroid syndrome.

Search all travel grants →NORD Financial Assistance ↗

Community

Open Genetic progeroid syndromeForum →

No community posts yet. Be the first to share your experience with Genetic progeroid syndrome.

Start the conversation →

Latest news about Genetic progeroid syndrome

No recent news articles for Genetic progeroid syndrome.

Follow this condition to be notified when news becomes available.

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 specific progeroid syndrome does my child or family member have, and what gene is involved?,What is the expected course of this condition, and what complications should we watch for?,Are there any disease-specific treatments or clinical trials available for this type of progeroid syndrome?,How often should we have heart, bone, and metabolic screenings?,What can we do at home to protect skin, bones, and joints?,Should other family members be tested for this genetic condition?,Are there support groups or patient organizations that can connect us with other families?

Common questions about Genetic progeroid syndrome

What is Genetic progeroid syndrome?

Genetic progeroid syndromes are a group of rare inherited conditions that cause the body to age much faster than normal. The word 'progeroid' comes from the Greek word for 'prematurely old.' People with these syndromes develop features that look like accelerated aging, often starting in childhood or early adulthood. These features can include hair loss, thin or wrinkled skin, loss of fat under the skin, joint stiffness, and problems with bones, the heart, and blood vessels. This Orphanet category (ORPHA:363245) serves as an umbrella grouping for several specific progeroid conditions, includin

Which specialists treat Genetic progeroid syndrome?

4 specialists and care centers treating Genetic progeroid syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.