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Disease Profile

Tarsal carpal coalition syndrome

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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Neonatal

ICD-10

Q74.8

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)

TCC

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

Tarsal carpal coalition syndrome (TCC) is a genetic condition characterized by fusion of the bones in the wrist (carpals), ankles (tarsals), and the fingers and toes (phalanges). Other bone abnormalities in the hands and feet may be present. Symptoms of TCC may include: stiffness and progressive immobility of the hands and feet and short stature. TCC is caused by mutations in the NOG gene, and it is inherited in an autosomal dominant manner.[1][2][3] Although there is no specific treatment or cure for TCC, there may be ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person.

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
80%-99% of people have these symptoms
Abnormality of the ankles
0003028
Short stature
Decreased body height
Small stature

[ more ]

0004322
Tarsal synostosis
Fused ankle bones
0008368
30%-79% of people have these symptoms
Carpal synostosis
0009702
Proximal symphalangism of hands
Fused innermost hinge joints
0006152
Radial deviation of finger
0009466
Short 1st metacarpal
Shortened 1st long bone of hand
0010034
5%-29% of people have these symptoms
Cubitus valgus
Outward turned elbows
0002967
Distal symphalangism of hands
Fused outermost bones of hand
0001204
Humeroradial synostosis
Fusion of upper and lower arm bones
0003041
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Brachydactyly
Short fingers or toes
0001156
Clinodactyly
Permanent curving of the finger
0030084
Progressive fusion 2nd-5th pip joints
0006147
Short finger
Stubby finger
0009381

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.

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

  • Genetics Home Reference (GHR) contains information on Tarsal carpal coalition syndrome. This website is maintained by the National Library of Medicine.

In-Depth Information

  • 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 Tarsal carpal coalition syndrome. Click on the link to view a sample search on this topic.

References

  1. Tarsal-carpal coalition syndrome. Orphanet. September 2007; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1412. Accessed 9/13/2016.
  2. tarsal-carpal coalition syndrome. Genetics Home Reference. April 2012; https://ghr.nlm.nih.gov/condition/tarsal-carpal-coalition-syndrome.
  3. Victor A. McKusick. TARSAL-CARPAL COALITION SYNDROME; TCC. In: Ada Hamosh. OMIM. 8/21/2012; https://www.omim.org/entry/186570.