Macrodactyly of fingers

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ORPHA:295044OMIM:155500Q74.0
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Overview

Macrodactyly of fingers is a rare congenital condition in which one or more fingers are abnormally large from birth. The word 'macrodactyly' literally means 'large digit.' In this condition, all the tissues of the affected finger — including bone, fat, skin, nerves, and blood vessels — grow larger than normal. The enlargement may be present at birth (static type) and grow proportionally with the child, or it may progressively worsen over time (progressive type), with the affected finger growing faster than the rest of the hand. Macrodactyly most commonly affects the index and middle fingers, and it usually occurs on only one hand. The condition can cause functional problems such as difficulty gripping objects, limited finger movement, and cosmetic concerns that may affect self-esteem. In some cases, the enlarged finger may also have stiffness or reduced range of motion at the joints. Treatment is primarily surgical. Options range from soft tissue debulking (removing excess tissue to reduce finger size) to epiphysiodesis (stopping bone growth in the affected finger) and, in severe cases, amputation of the affected digit. The choice of surgery depends on the severity of the enlargement, the number of fingers involved, and how much the condition affects hand function. Early evaluation by a hand surgeon or orthopedic specialist experienced with this condition is important to plan the best approach. While macrodactyly is not life-threatening, it can significantly impact hand function and quality of life if left untreated.

Also known as:

Key symptoms:

One or more fingers that are noticeably larger than normal from birthEnlarged bones in the affected fingerExcess fatty tissue in the affected fingerThickened skin on the enlarged fingerStiffness or limited bending of the affected fingerDifficulty gripping or holding objectsUneven hand appearanceEnlarged nerves in the affected fingerDeviation or curving of the enlarged fingerReduced hand function on the affected side

Clinical phenotype terms (8)— hover any for plain English
Macrodactyly of fingerHP:0100746Exostoses of hand bonesHP:0004276Abnormal hand morphologyHP:0005922HyperostosisHP:0100774Long metacarpalsHP:0010493Constrictive median neuropathyHP:0012185Entrapment neuropathy of the ulnar nerve at elbowHP:0012186
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.

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

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No specialists are currently listed for Macrodactyly of fingers.

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.

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.Is my child's macrodactyly the static or progressive type, and what does that mean for treatment?,Should we do genetic testing to check for PIK3CA mutations or rule out an overgrowth syndrome?,What surgical options are best for my child's specific situation?,How many surgeries might be needed, and what is the expected timeline?,What results can we realistically expect in terms of finger size and hand function?,Are there any new medical treatments being studied that might help?,Should my child see an occupational therapist before or after surgery?

Common questions about Macrodactyly of fingers

What is Macrodactyly of fingers?

Macrodactyly of fingers is a rare congenital condition in which one or more fingers are abnormally large from birth. The word 'macrodactyly' literally means 'large digit.' In this condition, all the tissues of the affected finger — including bone, fat, skin, nerves, and blood vessels — grow larger than normal. The enlargement may be present at birth (static type) and grow proportionally with the child, or it may progressively worsen over time (progressive type), with the affected finger growing faster than the rest of the hand. Macrodactyly most commonly affects the index and middle fingers,

How is Macrodactyly of fingers inherited?

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

At what age does Macrodactyly of fingers typically begin?

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