NAME syndrome

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ORPHA:623
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12Specialists8Treatment centers

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

NAME syndrome is a very rare condition that affects multiple parts of the body. The name is actually an acronym that stands for Nevi (unusual moles or skin growths), Atrial myxoma (a benign tumor that grows inside the heart), Myxoid neurofibromas (soft tissue growths under the skin), and Ephelides (freckles). It is closely related to — and sometimes considered part of — a broader condition called Carney complex. Some doctors use the terms NAME syndrome and Carney complex interchangeably, while others treat them as overlapping but slightly different diagnoses. The condition mainly affects the skin, heart, and hormone-producing glands. People with NAME syndrome can develop unusual pigmented spots on their skin, benign tumors in the heart that can block blood flow or cause dangerous heart rhythms, and growths in various tissues throughout the body. The hormone system may also be affected, sometimes causing the body to produce too much cortisol, a condition called Cushing syndrome. Treatment focuses on managing each problem as it appears. Heart tumors are usually removed with surgery. Skin changes are monitored closely. Hormone problems are treated with medication or surgery depending on the cause. There is no single cure for NAME syndrome, but with careful monitoring and timely treatment, many complications can be managed effectively.

Also known as:

Key symptoms:

Unusual pigmented spots or moles on the skin, especially on the face and lipsFreckles in unusual locations such as the lips, eyelids, or genitalsBenign tumors inside the heart (atrial myxomas) that can cause heart problemsSoft lumps under the skin (myxoid neurofibromas)Overproduction of cortisol by the adrenal glands (Cushing syndrome)Unusual skin growths called blue neviTumors of the thyroid glandTumors of the testicles in malesTumors of the pituitary gland in the brainIrregular heartbeat or heart murmurUnexplained weight gain and round face shape from hormone imbalanceEasy bruising or stretch marks from excess cortisol

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 ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for NAME syndrome.

View clinical trials →

No actively recruiting trials found for NAME syndrome at this time.

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

Search ClinicalTrials.gov ↗Join the NAME syndrome community →

Specialists

12 foundView all specialists →
MM
Margaret von Mehren
Specialist
PI on 4 active trials1 NAME syndrome publication
DM
Deborah P Merke, M.D.
BETHESDA, MD
Specialist
PI on 7 active trials
KM
Kim E. Nichols, MD
Memphis, Tennessee
Specialist

Rare Disease Specialist

PI on 2 active trials
LP
Laura C Hernández Ramírez, MD, PhD
Mexico City, Mexico City
Specialist

Rare Disease Specialist

PI on 1 active trial
JP
Jerome Bertherat, MD PH
Specialist
PI on 1 active trial3 NAME syndrome publications
LM
Lucinda Bateman, MD
MURRAY, UT
Specialist
PI on 3 active trials1 NAME syndrome publication
SP
Suzanne D Vernon, PhD
LOMA LINDA, CA
Specialist
PI on 1 active trial
AM
Antonella Fioravanti, MD
Specialist
PI on 2 active trials1 NAME syndrome publication
MP
Marie-Paule Schneider, PhD
Specialist
PI on 1 active trial
AS
Aurélie Gertsch, PhD Student
Specialist
PI on 1 active trial
WD
Wolfgang Weinmann, Prof. Dr.
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 NAME syndrome.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about NAME syndrome

No recent news articles for NAME syndrome.

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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.Which organs should I be screening regularly, and how often?,Should my family members be tested for the PRKAR1A gene mutation?,What are the warning signs that a heart tumor has come back, and what should I do if I notice them?,Do I have signs of Cushing syndrome, and if so, what treatment options are available?,Are there any clinical trials or research studies I could participate in?,What specialists should be part of my long-term care team?,Are there any activities or medications I should avoid because of my condition?

Common questions about NAME syndrome

What is NAME syndrome?

NAME syndrome is a very rare condition that affects multiple parts of the body. The name is actually an acronym that stands for Nevi (unusual moles or skin growths), Atrial myxoma (a benign tumor that grows inside the heart), Myxoid neurofibromas (soft tissue growths under the skin), and Ephelides (freckles). It is closely related to — and sometimes considered part of — a broader condition called Carney complex. Some doctors use the terms NAME syndrome and Carney complex interchangeably, while others treat them as overlapping but slightly different diagnoses. The condition mainly affects the

How is NAME syndrome inherited?

NAME syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

Which specialists treat NAME syndrome?

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