Overview
Distal arthrogryposis type 5D (DA5D) is a very rare genetic condition that affects the joints, particularly those in the hands and feet (the "distal" parts of the limbs). The term "arthrogryposis" means stiff or curved joints, and in this type, the joint stiffness is present from birth. People with DA5D typically have permanently bent or fixed fingers and toes, which can limit hand function and walking ability. Additional features may include limited movement at the wrists, ankles, and sometimes other joints. Some individuals may also have mild differences in facial features or other skeletal findings. Because DA5D is extremely rare, the medical understanding of this condition is still growing. It belongs to a larger family of distal arthrogryposis conditions (types 1 through 10 and beyond), each caused by different genetic changes but sharing the common feature of joint contractures in the hands and feet. Treatment is mainly supportive and focuses on improving joint movement and function through physical therapy, occupational therapy, splinting, and sometimes surgery. There is currently no cure, but early intervention can significantly improve quality of life and functional outcomes. A clinical geneticist can help confirm the diagnosis and guide management.
Also known as:
Key symptoms:
Stiff or fixed joints in the fingersStiff or fixed joints in the toesBent fingers that cannot fully straighten (camptodactyly)Overlapping fingersClubfoot or foot deformitiesLimited wrist movementLimited ankle movementDifficulty gripping or holding objectsDifficulty walking due to foot stiffnessMuscle weakness or underdevelopment in the hands and feetPossible mild facial differences
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 Distal arthrogryposis type 5D.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Distal arthrogryposis type 5D at this time.
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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 Distal arthrogryposis type 5D.
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.What specific genetic change is causing my child's condition?,How often should my child have physical and occupational therapy?,Will my child need surgery, and if so, when is the best time?,Are there adaptive devices that can help with daily tasks like writing or eating?,What is the chance of this condition occurring in future children?,Are there any clinical trials or new treatments being studied for this condition?,Should other family members be tested for the genetic change?
Common questions about Distal arthrogryposis type 5D
What is Distal arthrogryposis type 5D?
Distal arthrogryposis type 5D (DA5D) is a very rare genetic condition that affects the joints, particularly those in the hands and feet (the "distal" parts of the limbs). The term "arthrogryposis" means stiff or curved joints, and in this type, the joint stiffness is present from birth. People with DA5D typically have permanently bent or fixed fingers and toes, which can limit hand function and walking ability. Additional features may include limited movement at the wrists, ankles, and sometimes other joints. Some individuals may also have mild differences in facial features or other skeletal
How is Distal arthrogryposis type 5D inherited?
Distal arthrogryposis type 5D follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Distal arthrogryposis type 5D typically begin?
Typical onset of Distal arthrogryposis type 5D is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Distal arthrogryposis type 5D?
15 specialists and care centers treating Distal arthrogryposis type 5D are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.