Rare Nephrology News

Disease Profile

Congenital vertical talus

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Infancy

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ICD-10

Q66.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

CVT; Pes valgus, congenital convex; Rocker-bottom foot deformity;

Categories

Congenital and Genetic Diseases

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]

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.

Medical Terms Other Names
Learn More:
HPO ID
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
Rocker bottom foot
Rocker bottom feet
Rocker-bottom feet
Rockerbottom feet

[ more ]

0001838

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

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.

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

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.

References

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

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