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
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Symphalangism with multiple anomalies of hands and feet.
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Specialists
View all specialists →No specialists are currently listed for Symphalangism with multiple anomalies of hands and feet.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA 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.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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.