Macrodactyly of toes, unilateral

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ORPHA:295243OMIM:155500Q74.2
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8Treatment centers

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Overview

Macrodactyly of toes, unilateral, is a rare congenital condition where one or more toes on one foot are abnormally large at birth. The word 'macrodactyly' literally means 'large finger or toe.' In this condition, the bones, fat, skin, nerves, and other soft tissues of the affected toes grow more than normal, and this overgrowth typically affects only one side of the body (unilateral). The condition is usually noticed right at birth or during early childhood as the affected toes become noticeably bigger than the others. There are two main patterns of growth. In the 'static' type, the enlarged toes are present at birth and grow at the same rate as the rest of the foot. In the 'progressive' type, the affected toes grow faster than normal, becoming increasingly disproportionate over time. The overgrowth can cause difficulty fitting into shoes, problems with walking, pain, and cosmetic concerns. Treatment is primarily surgical. Options include debulking surgery to reduce the size of the affected toes, epiphysiodesis (a procedure to stop bone growth in the enlarged toes), or in severe cases, amputation of the affected toe. The choice of treatment depends on the severity of the overgrowth, the number of toes involved, and how much the condition affects daily function. Early evaluation by a specialist is important to plan the best approach for managing the condition over time.

Also known as:

Key symptoms:

One or more toes on one foot that are noticeably larger than normalEnlarged bones in the affected toesExcess fat and soft tissue in the affected toesThickened skin on the enlarged toesDifficulty fitting shoes on the affected footUneven walking or gait problemsPain or discomfort in the affected footStiffness in the joints of the enlarged toesCosmetic differences between the two feetProgressive worsening of toe size over time in some casesNerve enlargement in the affected area

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 toes, unilateral.

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

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

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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 toes, unilateral.

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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 the static or progressive type, and how does that affect the treatment plan?,Should we do genetic testing to rule out an underlying overgrowth syndrome?,What surgical options are best for my child's specific situation?,How many surgeries might be needed over time?,What is the risk of the overgrowth coming back after surgery?,Are there any non-surgical treatments or clinical trials we should consider?,What can we do to help with shoe fitting and daily comfort in the meantime?

Common questions about Macrodactyly of toes, unilateral

What is Macrodactyly of toes, unilateral?

Macrodactyly of toes, unilateral, is a rare congenital condition where one or more toes on one foot are abnormally large at birth. The word 'macrodactyly' literally means 'large finger or toe.' In this condition, the bones, fat, skin, nerves, and other soft tissues of the affected toes grow more than normal, and this overgrowth typically affects only one side of the body (unilateral). The condition is usually noticed right at birth or during early childhood as the affected toes become noticeably bigger than the others. There are two main patterns of growth. In the 'static' type, the enlarged

How is Macrodactyly of toes, unilateral inherited?

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

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

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