Macrodactyly of fingers, bilateral

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Overview

Macrodactyly of fingers, bilateral, is a rare congenital condition where one or more fingers on both hands 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, leading to fingers that are noticeably bigger than the others. This overgrowth can affect one finger or several fingers on each hand, and the enlargement may continue as the child grows. The condition is usually noticed at birth or in early infancy because the size difference between affected and unaffected fingers is visible. Having bilateral involvement means both hands are affected, which can make everyday tasks like gripping objects, writing, or buttoning clothes more challenging. The enlarged fingers may also cause cosmetic concerns and emotional distress. Treatment is primarily surgical. Options include debulking surgery to reduce the size of the enlarged fingers, epiphysiodesis (a procedure to stop further bone growth in the affected fingers), or in severe cases, amputation of the affected digit. There is no medication that can reverse or stop the overgrowth. Early evaluation by a hand surgeon and a geneticist is important to plan the best approach. Some cases of macrodactyly are associated with underlying conditions such as PIK3CA-related overgrowth spectrum (PROS), neurofibromatosis, or Proteus syndrome, so a thorough medical workup is recommended.

Also known as:

Key symptoms:

One or more abnormally large fingers on both handsEnlarged bones in the affected fingersExcess fat tissue in the affected fingersThickened skin on the affected digitsStiffness or reduced movement in the enlarged fingersDifficulty gripping or holding objectsUneven hand appearancePossible nerve enlargement in the affected fingersContinued overgrowth of affected fingers during childhoodDifficulty fitting gloves or using standard-sized tools

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 ↗NORD ↗

Treatments

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

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

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

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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, bilateral.

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Community

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Questions for your doctor

Bring these to your next appointment

  • Q1.Is my child's macrodactyly isolated, or could it be part of a larger syndrome?,Should we pursue genetic testing, and if so, what genes will be tested?,What surgical options are available, and how many procedures might be needed?,At what age is it best to start surgical treatment?,What is the risk of the overgrowth coming back after surgery?,Would occupational therapy help improve hand function?,Are there any new or experimental treatments, such as targeted drug therapies, that might apply to our case?

Common questions about Macrodactyly of fingers, bilateral

What is Macrodactyly of fingers, bilateral?

Macrodactyly of fingers, bilateral, is a rare congenital condition where one or more fingers on both hands 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, leading to fingers that are noticeably bigger than the others. This overgrowth can affect one finger or several fingers on each hand, and the enlargement may continue as the child grows. The condition is usually noticed at birth or in early infancy because the size difference between

How is Macrodactyly of fingers, bilateral inherited?

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

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

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