Overview
Congenital genu recurvatum is a rare condition present at birth where one or both knees bend backward (hyperextend) beyond their normal straight position. The term 'genu recurvatum' literally means 'knee bent backward.' In this condition, the knee joint is positioned in hyperextension when the baby is born, meaning the lower leg angles forward relative to the upper leg. The severity can range from mild, where the knee simply hyperextends a bit, to severe, where the knee is locked in a fully backward-bent position and cannot be flexed (bent) normally. This condition can occur on its own (isolated) or as part of broader syndromes that affect connective tissue or muscle tone. It may be associated with other joint or limb abnormalities. The cause is not always clear but may involve the baby's position in the womb (breech presentation), reduced movement in the womb, or underlying conditions affecting muscles, ligaments, or connective tissue. Treatment depends on severity. Mild cases often respond well to gentle stretching exercises, physical therapy, and serial casting (applying a series of casts to gradually bring the knee into a normal position). More severe cases, especially those where the knee is completely dislocated, may require surgical intervention. With early and appropriate treatment, many children achieve good knee function and can walk normally. The outlook is generally favorable for isolated cases, though outcomes depend on the underlying cause and severity.
Key symptoms:
Knee bending backward at birthInability to bend the knee forward normallyStiffness of the knee jointVisible deformity of the knee at birthDifficulty with leg movementSkin creasing or dimpling on the front of the kneeShortened quadriceps muscle (front thigh muscle)Possible hip dislocation on the same sideDelayed ability to crawl or walk if untreatedSwelling around the knee jointLeg length difference in some cases
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
FDA & Trial Timeline
2 eventsGeorgia Institute of Technology — NA
Cairo University — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Congenital genu recurvatum.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →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 Congenital genu recurvatum.
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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 is my child's genu recurvatum, and is the knee hyperextended or fully dislocated?,Is this an isolated condition or could it be part of a broader syndrome?,What treatment approach do you recommend — physical therapy, casting, or surgery?,How long will treatment take, and what outcomes can we expect?,Will my child be able to walk and run normally?,Should we see a geneticist to look for an underlying cause?,What long-term follow-up will my child need as they grow?
Common questions about Congenital genu recurvatum
What is Congenital genu recurvatum?
Congenital genu recurvatum is a rare condition present at birth where one or both knees bend backward (hyperextend) beyond their normal straight position. The term 'genu recurvatum' literally means 'knee bent backward.' In this condition, the knee joint is positioned in hyperextension when the baby is born, meaning the lower leg angles forward relative to the upper leg. The severity can range from mild, where the knee simply hyperextends a bit, to severe, where the knee is locked in a fully backward-bent position and cannot be flexed (bent) normally. This condition can occur on its own (isola
At what age does Congenital genu recurvatum typically begin?
Typical onset of Congenital genu recurvatum is neonatal. Age of onset can vary across affected individuals.
Are there clinical trials for Congenital genu recurvatum?
Yes — 1 recruiting clinical trial is currently listed for Congenital genu recurvatum on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Congenital genu recurvatum?
5 specialists and care centers treating Congenital genu recurvatum are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.