OBSOLETE: Symbrachydactyly of hand and foot, bilateral

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ORPHA:295138
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Overview

Symbrachydactyly of hand and foot, bilateral, is a rare congenital limb malformation that affects both the hands and feet on both sides of the body. The term 'symbrachydactyly' refers to a condition where fingers or toes are abnormally short (brachydactyly) and may be joined together or webbed (syndactyly). In some cases, fingers or toes may be partially or completely missing, with small skin nubs or tiny remnants of bone present where the digits would normally be. This condition is present at birth and results from incomplete development of the limbs during pregnancy. Note that this Orphanet entry is labeled as 'OBSOLETE,' meaning it may have been reclassified, merged with another condition, or updated under a different diagnostic category. Patients and families who were previously given this diagnosis should consult with a clinical geneticist to determine the current classification and whether additional evaluation is needed. The severity of this condition varies widely. Some individuals have mild shortening of fingers and toes with good function, while others may have significant limb differences that affect grasping, walking, and daily activities. Treatment is primarily supportive and may include surgery to separate fused digits, improve hand or foot function, or correct alignment. Prosthetic devices, occupational therapy, and physical therapy can also help maximize independence and quality of life. Because bilateral involvement of both hands and feet is unusual for typical symbrachydactyly (which more commonly affects one hand), this presentation may suggest an underlying genetic syndrome, and thorough genetic evaluation is recommended.

Key symptoms:

Short fingers on both handsShort toes on both feetMissing fingers or toesWebbed or fused fingersWebbed or fused toesSmall skin nubs where fingers or toes should beReduced grip strengthDifficulty with fine motor tasks like buttoning clothesDifficulty with walking or balance if feet are significantly affectedUneven hand or foot size compared to normalStiff finger or toe joints

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Symbrachydactyly of hand and foot, bilateral.

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No actively recruiting trials found for OBSOLETE: Symbrachydactyly of hand and foot, bilateral at this time.

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No specialists are currently listed for OBSOLETE: Symbrachydactyly of hand and foot, bilateral.

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 OBSOLETE: Symbrachydactyly of hand and foot, bilateral.

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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.Has this condition been reclassified under a newer diagnosis, and what is the current correct name?,Should my child have genetic testing to look for an underlying syndrome?,What surgical options are available to improve hand and foot function?,At what age should surgery be considered, and how many procedures might be needed?,What therapies (occupational, physical) should we start, and how often?,Are there specialized limb difference clinics we should be referred to?,What resources or support groups are available for families affected by limb differences?

Common questions about OBSOLETE: Symbrachydactyly of hand and foot, bilateral

What is OBSOLETE: Symbrachydactyly of hand and foot, bilateral?

Symbrachydactyly of hand and foot, bilateral, is a rare congenital limb malformation that affects both the hands and feet on both sides of the body. The term 'symbrachydactyly' refers to a condition where fingers or toes are abnormally short (brachydactyly) and may be joined together or webbed (syndactyly). In some cases, fingers or toes may be partially or completely missing, with small skin nubs or tiny remnants of bone present where the digits would normally be. This condition is present at birth and results from incomplete development of the limbs during pregnancy. Note that this Orphanet

At what age does OBSOLETE: Symbrachydactyly of hand and foot, bilateral typically begin?

Typical onset of OBSOLETE: Symbrachydactyly of hand and foot, bilateral is neonatal. Age of onset can vary across affected individuals.