Macrodactyly of fingers, unilateral

Last reviewed

🖨 Print for my doctorAdvocacy Hub →
ORPHA:295239OMIM:155500Q74.0
Who is this for?
Show terms as
8Treatment centers

Where are you in your journey?

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

Overview

Macrodactyly of fingers, unilateral, is a rare congenital condition where one or more fingers on one hand are abnormally large from birth. The word 'macrodactyly' literally means 'large digit.' In this condition, the bones, fat, skin, nerves, and other soft tissues of the affected fingers grow more than normal, but only on one side of the body (unilateral). This is not a cancerous growth — it is an overgrowth of normal tissues that happens during development before birth and may continue during childhood. The condition is usually noticed right at birth because the affected fingers appear noticeably larger than the others. The enlarged fingers can make it difficult to grip objects, and the hand may look different from the other hand. In some cases, the overgrowth is progressive, meaning the fingers continue to grow faster than normal throughout childhood. In other cases, the enlarged fingers grow at the same rate as the rest of the body (static type) but remain proportionally larger. Treatment is primarily surgical. Options include debulking surgery to reduce the size of the affected fingers, epiphysiodesis (a procedure to stop bone growth in the enlarged fingers), and in severe cases, amputation of the affected digit. The goal of treatment is to improve hand function and appearance. There is no medication that can treat macrodactyly. Early evaluation by a hand surgeon experienced with this condition is important to plan the best approach for each child.

Also known as:

Key symptoms:

One or more fingers on one hand that are much larger than normal from birthEnlarged bones in the affected fingersExcess fat tissue in the affected fingersThickened skin on the enlarged fingersStiffness in the affected fingersDifficulty bending or straightening the enlarged fingersTrouble gripping or holding objectsUneven hand appearance compared to the other handPossible nerve enlargement in the affected areaProgressive increase in finger size during childhood in some cases

Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Macrodactyly of fingers, unilateral.

View clinical trials →

No actively recruiting trials found for Macrodactyly of fingers, unilateral at this time.

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

Search ClinicalTrials.gov ↗Join the Macrodactyly of fingers, unilateral community →

No specialists are currently listed for Macrodactyly of fingers, unilateral.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

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 Macrodactyly of fingers, unilateral.

Search all travel grants →NORD Financial Assistance ↗

Community

Open Macrodactyly of fingers, unilateralForum →

No community posts yet. Be the first to share your experience with Macrodactyly of fingers, unilateral.

Start the conversation →

Latest news about Macrodactyly of fingers, unilateral

No recent news articles for Macrodactyly of fingers, unilateral.

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.Is my child's macrodactyly the static type or the progressive type, and what does that mean for treatment?,Should we do genetic testing to check for a PIK3CA mutation or a related overgrowth syndrome?,What surgical options are recommended for my child, and how many procedures might be needed?,What are the risks and expected outcomes of surgery?,When is the best time to start treatment?,Will my child need occupational therapy, and for how long?,Are there any clinical trials or new treatments, such as PIK3CA inhibitors, that might be appropriate for my child?

Common questions about Macrodactyly of fingers, unilateral

What is Macrodactyly of fingers, unilateral?

Macrodactyly of fingers, unilateral, is a rare congenital condition where one or more fingers on one hand are abnormally large from birth. The word 'macrodactyly' literally means 'large digit.' In this condition, the bones, fat, skin, nerves, and other soft tissues of the affected fingers grow more than normal, but only on one side of the body (unilateral). This is not a cancerous growth — it is an overgrowth of normal tissues that happens during development before birth and may continue during childhood. The condition is usually noticed right at birth because the affected fingers appear noti

How is Macrodactyly of fingers, unilateral inherited?

Macrodactyly of fingers, unilateral follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Macrodactyly of fingers, unilateral typically begin?

Typical onset of Macrodactyly of fingers, unilateral is neonatal. Age of onset can vary across affected individuals.