Symbrachydactyly of hands and feet

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Overview

Symbrachydactyly of hands and feet is a rare congenital (present at birth) limb malformation that affects the fingers and toes. The name comes from combining 'sym' (together), 'brachy' (short), and 'dactyly' (digits), describing a condition where the fingers and/or toes are short, stiff, or partially fused, and in some cases, some digits may be missing entirely. In this particular form, both the hands and feet are involved, which is less common than symbrachydactyly affecting the hands alone. The condition occurs during early fetal development when the limb buds are forming. Children born with this condition may have fingers and toes that are unusually short (brachydactyly), webbed or fused together (syndactyly), or underdeveloped. In more severe cases, only small skin nubs or bumps may be present where fingers or toes would normally grow. The severity can vary widely from one person to another, and the involvement may not be the same on both sides of the body. Treatment focuses on improving hand and foot function and appearance. Surgical options may include separating fused digits, lengthening short bones, or reconstructing missing fingers using techniques such as toe-to-hand transfers or distraction osteogenesis. Occupational therapy and physical therapy play important roles in helping children develop fine motor skills and mobility. Many children adapt remarkably well and lead full, active lives. Early evaluation by a specialized team is important to plan the best approach for each child's unique needs.

Also known as:

Key symptoms:

Short fingers or toesMissing fingers or toesWebbed or fused fingers or toesSmall skin nubs where fingers or toes should beUnderdeveloped hand or foot bonesStiff finger or toe jointsUnequal involvement between left and right sidesDifficulty gripping or grasping objectsDifficulty with fine motor tasks like buttoning clothesReduced hand or foot sizeShortened forearm or lower leg bones in some cases

Clinical phenotype terms (8)— hover any for plain English
Maternal diabetesHP:0009800Abnormality of the humeroulnar jointHP:0100745Abnormal humerus morphologyHP:0031095
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 Symbrachydactyly of hands and feet.

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No actively recruiting trials found for Symbrachydactyly of hands and feet at this time.

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No specialists are currently listed for Symbrachydactyly of hands and feet.

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 Symbrachydactyly of hands and feet.

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Community

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.How severe is my child's symbrachydactyly, and which bones and digits are affected?,What surgical options are available, and what is the recommended timeline for procedures?,Should my child see a geneticist to rule out any associated syndromes?,What kind of occupational or physical therapy will my child need?,Are there adaptive devices or tools that can help my child with daily activities?,What outcomes can we realistically expect in terms of hand and foot function?,Are there support groups or resources for families of children with limb differences?

Common questions about Symbrachydactyly of hands and feet

What is Symbrachydactyly of hands and feet?

Symbrachydactyly of hands and feet is a rare congenital (present at birth) limb malformation that affects the fingers and toes. The name comes from combining 'sym' (together), 'brachy' (short), and 'dactyly' (digits), describing a condition where the fingers and/or toes are short, stiff, or partially fused, and in some cases, some digits may be missing entirely. In this particular form, both the hands and feet are involved, which is less common than symbrachydactyly affecting the hands alone. The condition occurs during early fetal development when the limb buds are forming. Children born wit

How is Symbrachydactyly of hands and feet inherited?

Symbrachydactyly of hands and feet follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Symbrachydactyly of hands and feet typically begin?

Typical onset of Symbrachydactyly of hands and feet is neonatal. Age of onset can vary across affected individuals.