Synpolydactyly type 2

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ORPHA:295197OMIM:608180Q70.0Q70.2
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Overview

Synpolydactyly type 2 (also called SPD2 or synpolydactyly type II) is a rare inherited condition that affects the development of the hands and feet before birth. In this condition, two or more fingers or toes are fused together (syndactyly) and there are also extra fingers or toes (polydactyly). The combination of these two features — fusion and extra digits — is what gives the condition its name "synpolydactyly." Type 2 is distinguished from type 1 by its specific genetic cause and sometimes by the pattern of digit involvement. The condition is present at birth and is usually noticed right away. The most commonly affected digits are the third and fourth fingers (middle and ring fingers) and the fourth and fifth toes. The extra digits may be fully formed or may appear as small, incomplete nubs of tissue. The severity can vary widely, even among members of the same family. Some people have mild webbing between fingers, while others have more complex bony fusions and multiple extra digits. Treatment is primarily surgical. Orthopedic or plastic surgeons who specialize in hand and foot surgery can separate fused digits and remove extra ones. Surgery is typically performed in early childhood to improve hand function and appearance. With appropriate surgical care, most individuals with synpolydactyly type 2 can achieve good hand and foot function. There is currently no medication or gene therapy available for this condition, so management focuses on corrective surgery and supportive care such as physical therapy after operations.

Also known as:

Key symptoms:

Fingers fused or webbed togetherToes fused or webbed togetherExtra fingers on one or both handsExtra toes on one or both feetBony fusion between fingers or toesShortened or unusually shaped fingersStiff or limited movement in affected fingersUneven hand or foot appearanceDifficulty gripping small objects if hands are affectedDifficulty with shoe fitting if feet are affected

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 2.

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No actively recruiting trials found for Synpolydactyly type 2 at this time.

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No specialists are currently listed for Synpolydactyly type 2.

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 2.

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Community

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

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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 digits are affected?,When is the best time to have surgery, and how many operations might be needed?,What are the risks and expected outcomes of surgery?,Should we have genetic testing to confirm the diagnosis and understand the risk for future children?,Will my child need physical or occupational therapy after surgery?,Are there any activities my child should avoid before or after surgery?,How often should we schedule follow-up visits as my child grows?

Common questions about Synpolydactyly type 2

What is Synpolydactyly type 2?

Synpolydactyly type 2 (also called SPD2 or synpolydactyly type II) is a rare inherited condition that affects the development of the hands and feet before birth. In this condition, two or more fingers or toes are fused together (syndactyly) and there are also extra fingers or toes (polydactyly). The combination of these two features — fusion and extra digits — is what gives the condition its name "synpolydactyly." Type 2 is distinguished from type 1 by its specific genetic cause and sometimes by the pattern of digit involvement. The condition is present at birth and is usually noticed right a

How is Synpolydactyly type 2 inherited?

Synpolydactyly type 2 follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Synpolydactyly type 2 typically begin?

Typical onset of Synpolydactyly type 2 is neonatal. Age of onset can vary across affected individuals.