Synpolydactyly type 1

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ORPHA:295195OMIM:186000Q70.2Q70.0
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Overview

Synpolydactyly type 1 (also called SPD1 or syndactyly type II) is a rare inherited condition that affects the development of the fingers and toes before birth. In this condition, a person is born with extra fingers or toes (polydactyly) combined with webbing or fusion between certain fingers or toes (syndactyly). The most common pattern involves webbing between the third and fourth fingers of the hand, with an extra finger partially hidden within the webbed skin. In the feet, webbing typically occurs between the fourth and fifth toes, sometimes with an extra toe present as well. The severity can vary widely, even among members of the same family — some people may have very mild webbing that is barely noticeable, while others may have more complex hand or foot differences that affect function. Synpolydactyly type 1 is caused by changes (mutations) in the HOXD13 gene, which plays an important role in limb development during pregnancy. The condition follows an autosomal dominant inheritance pattern, meaning only one copy of the altered gene is needed to cause the condition. Treatment is primarily surgical and focuses on separating fused fingers or toes and removing extra digits to improve hand and foot function and appearance. With appropriate surgical care, most individuals with synpolydactyly type 1 lead fully normal and active lives. Early evaluation by a hand surgeon or orthopedic specialist experienced in limb differences is recommended to plan the best timing and approach for any needed procedures.

Also known as:

Key symptoms:

Webbing or fusion between the third and fourth fingersExtra finger hidden within the webbed skin of the handWebbing or fusion between the fourth and fifth toesExtra toe in the footShortened or unusually shaped fingers or toesStiffness in affected fingers or toesUneven finger or toe lengthDifferences in hand or foot appearance between left and right sidesMild difficulty with fine motor tasks if fingers are fusedNail abnormalities on affected digits

Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

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 Synpolydactyly type 1.

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No actively recruiting trials found for Synpolydactyly type 1 at this time.

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No specialists are currently listed for Synpolydactyly type 1.

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 Synpolydactyly type 1.

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Community

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Caregiver Resources

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Social Security Disability

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Questions for your doctor

Bring these to your next appointment

  • Q1.How severe is my child's synpolydactyly, and which fingers and toes are affected?,Will my child need surgery, and if so, what is the best age to have it done?,How many surgeries might be needed, and what results can we expect?,Should we pursue genetic testing to confirm the diagnosis?,What is the chance that future children will also have this condition?,Will my child need occupational therapy after surgery?,Are there any long-term complications we should watch for as my child grows?

Common questions about Synpolydactyly type 1

What is Synpolydactyly type 1?

Synpolydactyly type 1 (also called SPD1 or syndactyly type II) is a rare inherited condition that affects the development of the fingers and toes before birth. In this condition, a person is born with extra fingers or toes (polydactyly) combined with webbing or fusion between certain fingers or toes (syndactyly). The most common pattern involves webbing between the third and fourth fingers of the hand, with an extra finger partially hidden within the webbed skin. In the feet, webbing typically occurs between the fourth and fifth toes, sometimes with an extra toe present as well. The severity c

How is Synpolydactyly type 1 inherited?

Synpolydactyly type 1 follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Synpolydactyly type 1 typically begin?

Typical onset of Synpolydactyly type 1 is neonatal. Age of onset can vary across affected individuals.