Congenital vertical talus

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ORPHA:178382OMIM:192950Q66.8
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Overview

Congenital vertical talus (CVT), also known as congenital convex pes valgus or rocker-bottom foot, is a rare congenital foot deformity present at birth in which the talus bone in the ankle is abnormally oriented in a vertical position. This causes the midfoot to be dorsally dislocated on the hindfoot, resulting in a rigid flatfoot with a characteristic 'rocker-bottom' appearance. The sole of the foot is convex, and the heel is in a fixed equinovalgus position while the forefoot is dorsiflexed and abducted. The condition can occur in one or both feet. Congenital vertical talus may present as an isolated deformity or in association with neuromuscular conditions, chromosomal abnormalities (such as trisomy 13, trisomy 18), or genetic syndromes including arthrogryposis and myelomeningocele. Isolated familial cases have been linked to mutations in the HOXD10 gene and genes in the Wnt signaling pathway. Affected infants typically have a rigid, convex sole that does not correct with manipulation, difficulty with shoe fitting, and abnormal gait once walking age is reached. Treatment has evolved significantly. The current standard of care for isolated CVT involves the reverse Ponseti method, a minimally invasive approach using serial casting to gradually correct the deformity, followed by a percutaneous Achilles tenotomy and sometimes a limited open reduction to stabilize the talonavicular joint. This technique has largely replaced more extensive surgical procedures. Early diagnosis and treatment, ideally beginning in infancy, lead to better functional outcomes. Without treatment, the deformity causes pain, callus formation on the sole, and significant difficulty with ambulation.

Also known as:

Clinical phenotype terms— hover any for plain English:

Equinus calcaneusHP:0008138Abnormality of the foot musculatureHP:0001436Achilles tendon contractureHP:0001771Rocker bottom footHP:0001838Pes valgusHP:0008081Lower extremity joint dislocationHP:0030311Distal arthrogryposisHP:0005684Foot painHP:0025238MyelomeningoceleHP:0002475Hyperplastic callus formationHP:0030268Ankle painHP:0030840
Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

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 Congenital vertical talus.

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No actively recruiting trials found for Congenital vertical talus at this time.

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No specialists are currently listed for Congenital vertical talus.

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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 Congenital vertical talus.

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Common questions about Congenital vertical talus

What is Congenital vertical talus?

Congenital vertical talus (CVT), also known as congenital convex pes valgus or rocker-bottom foot, is a rare congenital foot deformity present at birth in which the talus bone in the ankle is abnormally oriented in a vertical position. This causes the midfoot to be dorsally dislocated on the hindfoot, resulting in a rigid flatfoot with a characteristic 'rocker-bottom' appearance. The sole of the foot is convex, and the heel is in a fixed equinovalgus position while the forefoot is dorsiflexed and abducted. The condition can occur in one or both feet. Congenital vertical talus may present as a

At what age does Congenital vertical talus typically begin?

Typical onset of Congenital vertical talus is neonatal. Age of onset can vary across affected individuals.