Congenital vertical talus

Title

Other Names:

CVT; Pes valgus, congenital convex; Rocker-bottom foot deformity; CVT; Pes valgus, congenital convex; Rocker-bottom foot deformity; Rocker bottom foot; Congenital convex pes valgus; Vertical talus, congenital; Vertical talus See More

Categories:

Congenital and Genetic Diseases

Summary Summary

Congenital vertical talus, sometimes called "rocker-bottom foot," is a rare birth defect of the foot in which the talus bone has formed in the wrong position and other foot bones have shifted on top of it. As a result, the front of the foot points up and the bottom of the foot is stiff and has no arch (flatfoot), usually curving outward like the bottom of a rocker.^[1] One or both feet may be affected.^[2] The underlying cause of vertical talus is usually not known.^[1] It can occur by itself (isolated) or may be associated with a genetic syndrome or neuromuscular disorder.^[1]^[3] Rare familial cases have been reported, some due to a mutation in a gene called HOXD10.^[4] While vertical talus is not painful in very early childhood, if left untreated it typically leads to pain and disability later in life. Treatment usually involves surgery before one year of age to correct the problems with the bones, and the ligaments and tendons that support the bones.^[1]

Last updated: 11/2/2016

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Rocker bottom foot	Rocker bottom feet Rocker-bottom feet Rockerbottom feet [ more ]	0001838
Percent of people who have these symptoms is not available through HPO
Arthritis	Joint inflammation	0001369
Autosomal dominant inheritance		0000006
Calcaneovalgus deformity		0001848
Equinus calcaneus		0008138

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 10/1/2018

Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment Treatment

Congenital vertical talus should be treated early to avoid pain and disability when the child learns to walk. The most common treatment is surgery, but some doctors may first recommend trying nonsurgical treatment. This may include a series of stretching and serial casting to increase the flexibility of the foot.^[1] This may decrease the amount of surgery that is needed, or, in some cases, prevent the need for surgery.^[2]

In most cases, surgery is recommended at around 9 to 12 months of age. The goal of surgery is to correct all aspects of the deformity, which includes the position of the bones as well as the ligaments and tendons that support these bones. When the bones are put in the correct position, pins may be inserted for a few weeks to keep them in place. Any tendons or ligaments that may have shortened as a result of the deformity may be lengthened. In most cases, recovery with a cast takes about 4 to 6 weeks. A brace or special shoe may be needed for a period of time to prevent the deformity from returning.^[1]

If congenital vertical talus occurs in association with other birth defects or an underlying genetic syndrome or neuromuscular disorder, treatment recommendations may differ depending on the associated abnormality.

Last updated: 11/2/2016

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

The American Academy of Orthopaedic Surgeons has information on Congenital vertical talus. Click on the link above to view this information page.
The Pediatric Orthopaedic Society of North America (POSNA) provides information about this condition.

In-Depth Information

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Congenital vertical talus. Click on the link to view a sample search on this topic.

News & Events News & Events

News

NCATS Rare Diseases Are Not Rare! Challenge
October 9, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018

GARD Answers GARD Answers

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References References

Vertical Talus. American Academy of Orthopaedic Surgeons. August, 2011; http://orthoinfo.aaos.org/topic.cfm?topic=A00612.
Vertical Talus. Pediatric Orthopaedic Society of North America (POSNA). http://orthokids.org/Condition/Vertical-Talus.
Jeffrey D Thomson. Congenital Vertical Talus. Medscape Reference. August 22, 2016; http://emedicine.medscape.com/article/1259681-overview.
Cassandra L. Kniffin. VERTICAL TALUS, CONGENITAL; CVT. OMIM. April 7, 2014; http://www.omim.org/entry/192950.