Syndromic obesity

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1Active trials8Treatment centers

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Overview

Syndromic obesity refers to a group of rare genetic conditions where severe obesity occurs alongside other medical features such as intellectual disability, organ-specific abnormalities, or distinctive physical characteristics. Unlike common obesity, which is mainly caused by lifestyle and multiple small genetic factors, syndromic obesity is driven by specific genetic changes that affect how the body regulates hunger, energy use, and development. These conditions typically begin in early childhood, and the obesity is often very difficult to manage with diet and exercise alone. There are many different forms of syndromic obesity, each caused by different genes and presenting with a unique combination of symptoms. Some well-known examples include Bardet-Biedl syndrome, Alström syndrome, Prader-Willi syndrome, and Cohen syndrome. Common features across many of these conditions include early-onset severe obesity, developmental delays, vision or hearing problems, and sometimes heart, kidney, or hormonal abnormalities. Treatment is largely supportive and depends on the specific syndrome involved. Management typically includes dietary counseling, behavioral support, physical activity programs, and treatment of associated medical problems such as diabetes, high blood pressure, or hormonal imbalances. In some cases, medications targeting specific hunger pathways, such as setmelanotide (Imcivree), may be used for certain genetic forms. Early diagnosis through genetic testing is important because it allows doctors to screen for and manage complications before they become severe.

Key symptoms:

Severe obesity starting in early childhoodIntellectual disability or learning difficultiesDevelopmental delaysVision problems or progressive vision lossHearing lossExtra fingers or toesShort statureHormonal imbalancesType 2 diabetes at a young ageKidney problemsHeart defectsInsatiable hunger or constant food-seeking behaviorBehavioral challengesDelayed puberty or reproductive problemsLow muscle tone in infancy

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Syndromic obesity.

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

View clinical trials →

Clinical Trials

1 recruitingView all trials with filters →
Phase 31 trial
A Study Evaluating Mibavademab Treatment of Obesity Due to Leptin (LEP) Gene Mutations in Children, Adolescents and Adults
Phase 3
Actively Recruiting
PI: Clinical Trial Management (Regeneron Pharmaceuticals) · Sites: Ulm · Age: 299 yrs

Specialists

5 foundView all specialists →
EP
Emmanuel DISSE, Pr
Specialist
PI on 1 active trial
AM
Andrea M Haqq, MD
DURHAM, NC
Specialist
PI on 2 active trials1 Syndromic obesity publication
MM
Michael Freemark, MD
DURHAM, NC
Specialist
PI on 1 active trial
MM
Marie-Ange DELRUE, MD
Specialist
PI on 1 active trial
BP
Béatrice DUBERN, MD, PhD
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 Syndromic obesity.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Syndromic obesity

No recent news articles for Syndromic obesity.

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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.What specific type of syndromic obesity does my child have, and which gene is involved?,Are there any targeted medications, such as setmelanotide, that could help with my child's specific genetic form?,What complications should we screen for regularly, and how often?,What dietary plan do you recommend, and can we be referred to a specialized dietitian?,Are there clinical trials or new treatments being studied for this condition?,What educational and developmental support services should we pursue?,Should other family members be tested for the same genetic change?

Common questions about Syndromic obesity

What is Syndromic obesity?

Syndromic obesity refers to a group of rare genetic conditions where severe obesity occurs alongside other medical features such as intellectual disability, organ-specific abnormalities, or distinctive physical characteristics. Unlike common obesity, which is mainly caused by lifestyle and multiple small genetic factors, syndromic obesity is driven by specific genetic changes that affect how the body regulates hunger, energy use, and development. These conditions typically begin in early childhood, and the obesity is often very difficult to manage with diet and exercise alone. There are many

At what age does Syndromic obesity typically begin?

Typical onset of Syndromic obesity is childhood. Age of onset can vary across affected individuals.

Are there clinical trials for Syndromic obesity?

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

Which specialists treat Syndromic obesity?

5 specialists and care centers treating Syndromic obesity are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.