Overview
Familial clubfoot due to 5q31 microdeletion is a rare genetic condition in which babies are born with one or both feet turned inward and downward, a deformity known as clubfoot (also called talipes equinovarus). This specific form of clubfoot is caused by a tiny missing piece of genetic material on chromosome 5, in a region called 5q31. Because this deletion can run in families, it is referred to as "familial," meaning multiple family members may be affected. Clubfoot caused by this microdeletion is present at birth. The affected foot appears rotated, with the sole facing inward or upward, and the foot may be smaller and the calf muscles thinner on the affected side. Without treatment, walking can be very difficult. In some cases, additional features may be present depending on the exact size of the deletion, but the hallmark finding is the foot deformity. Treatment typically follows the same approach used for other forms of clubfoot. The Ponseti method, which involves gentle stretching and serial casting of the foot starting in the newborn period, is the most widely used first-line treatment. Some children may need a minor surgical procedure called an Achilles tenotomy, and most will need to wear a foot brace for several years to prevent the clubfoot from returning. In more severe or resistant cases, additional surgery may be required. Early diagnosis and treatment lead to the best outcomes, and most children can achieve good foot function with proper care.
Also known as:
Key symptoms:
One or both feet turned inward and downward at birthFoot appears twisted so the sole faces sideways or upwardStiffness in the affected foot and ankleSmaller foot on the affected sideThinner calf muscle on the affected legDifficulty moving the foot into a normal positionLeg length differenceDifficulty walking if untreatedPossible mild developmental differences depending on deletion size
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 Familial clubfoot due to 5q31 microdeletion.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Familial clubfoot due to 5q31 microdeletion at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Familial clubfoot due to 5q31 microdeletion.
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 Familial clubfoot due to 5q31 microdeletion.
Community
No community posts yet. Be the first to share your experience with Familial clubfoot due to 5q31 microdeletion.
Start the conversation →Latest news about Familial clubfoot due to 5q31 microdeletion
No recent news articles for Familial clubfoot due to 5q31 microdeletion.
Follow this condition to be notified when news becomes available.
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 large is the deletion on chromosome 5q31, and could it affect anything besides the feet?,What is the recommended treatment plan, and how long will casting and bracing last?,What are the chances the clubfoot could come back after treatment?,Should other family members be tested for this deletion?,What is the chance of passing this condition to future children?,Are there any additional developmental concerns we should watch for?,When should we expect our child to reach walking milestones?
Common questions about Familial clubfoot due to 5q31 microdeletion
What is Familial clubfoot due to 5q31 microdeletion?
Familial clubfoot due to 5q31 microdeletion is a rare genetic condition in which babies are born with one or both feet turned inward and downward, a deformity known as clubfoot (also called talipes equinovarus). This specific form of clubfoot is caused by a tiny missing piece of genetic material on chromosome 5, in a region called 5q31. Because this deletion can run in families, it is referred to as "familial," meaning multiple family members may be affected. Clubfoot caused by this microdeletion is present at birth. The affected foot appears rotated, with the sole facing inward or upward, an
How is Familial clubfoot due to 5q31 microdeletion inherited?
Familial clubfoot due to 5q31 microdeletion follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Familial clubfoot due to 5q31 microdeletion typically begin?
Typical onset of Familial clubfoot due to 5q31 microdeletion is neonatal. Age of onset can vary across affected individuals.