Symphalangism with multiple anomalies of hands and feet

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ORPHA:3246OMIM:185750Q74.8
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Overview

Symphalangism with multiple anomalies of hands and feet is an extremely rare genetic condition that affects the development of the bones in the hands and feet. The term 'symphalangism' means that certain finger or toe joints are fused or stiff, meaning they cannot bend normally. In this particular form of the condition, the joint fusions are accompanied by additional bone and structural abnormalities in the hands and feet, which may include short fingers (brachydactyly), abnormal finger or toe alignment, fused bones in the wrist or ankle, and other skeletal differences. This condition is present from birth, and the bone abnormalities can usually be seen on X-rays early in life. The severity can vary from person to person, even within the same family. Some individuals may have mild stiffness in a few joints, while others may have more widespread involvement that affects hand function and foot comfort. There is currently no cure for this condition. Treatment focuses on managing symptoms and improving function. This may include physical therapy and occupational therapy to maintain as much joint movement as possible, orthopedic interventions such as splinting or corrective surgery for significant deformities, and supportive footwear or orthotics for foot abnormalities. Pain management may also be needed in some cases. A team of specialists typically works together to provide the best care for affected individuals.

Also known as:

Key symptoms:

Stiff or fused finger joints that cannot bendStiff or fused toe jointsShort fingers or toesAbnormal shape or alignment of fingersAbnormal shape or alignment of toesFused bones in the wrist areaFused bones in the ankle areaLimited hand grip or dexterityDifficulty with fine motor tasksFoot pain or discomfort when walkingNail abnormalitiesBroad or wide fingertips

Clinical phenotype terms (22)— hover any for plain English
Fourth finger symphalangismHP:0004197Fifth finger symphalangismHP:0004218Reduced proximal interphalangeal joint spaceHP:0006019Absent distal interphalangeal creasesHP:0001032Small thenar eminenceHP:0001245Aplasia of distal finger phalanxHP:0009881Finger symphalangismHP:0009700Toe symphalangismHP:0010179Abnormal distal toe phalanx morphologyHP:0010182Small hypothenar eminenceHP:0010487Abnormal palmar dermatoglyphicsHP:00010182-5 finger cutaneous syndactylyHP:0005650Abnormal finger flexion creaseHP:0006143
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 Symphalangism with multiple anomalies of hands and feet.

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No actively recruiting trials found for Symphalangism with multiple anomalies of hands and feet at this time.

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No specialists are currently listed for Symphalangism with multiple anomalies 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 Symphalangism with multiple anomalies of hands and feet.

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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.

Mental Health Support

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Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.How severe are the joint fusions in my child's hands and feet, and which joints are affected?,Would surgery help improve hand or foot function, and what are the risks?,What types of therapy would be most helpful, and how often should sessions occur?,Are there adaptive tools or devices that could help with daily tasks?,Should other family members be examined or tested for this condition?,What should we watch for as my child grows — could the condition get worse?,Are there any clinical trials or new treatments being studied for this condition?

Common questions about Symphalangism with multiple anomalies of hands and feet

What is Symphalangism with multiple anomalies of hands and feet?

Symphalangism with multiple anomalies of hands and feet is an extremely rare genetic condition that affects the development of the bones in the hands and feet. The term 'symphalangism' means that certain finger or toe joints are fused or stiff, meaning they cannot bend normally. In this particular form of the condition, the joint fusions are accompanied by additional bone and structural abnormalities in the hands and feet, which may include short fingers (brachydactyly), abnormal finger or toe alignment, fused bones in the wrist or ankle, and other skeletal differences. This condition is pres

How is Symphalangism with multiple anomalies of hands and feet inherited?

Symphalangism with multiple anomalies of hands and feet follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Symphalangism with multiple anomalies of hands and feet typically begin?

Typical onset of Symphalangism with multiple anomalies of hands and feet is neonatal. Age of onset can vary across affected individuals.