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.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
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
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.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
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.
Congenital and Genetic Diseases; Endocrine Diseases; Musculoskeletal Diseases;
A chordoma is a rare
Chordomas typically present in adults between the ages of 40 and 70 and can occur anywhere along the spine. About half of all chordomas occur at the bottom of the spine (sacrum); about one third occur at the base of the skull. The remaining cases of chordomas form in the spine at the level of the neck, chest, or other parts of the lower back. Chordomas grow slowly, extending gradually into the surrounding bone and soft
In many cases, the cause of the chordoma remains unknown. Recent studies have shown that changes in the T gene have been associated with chordomas in a small set of families. In these families an
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||
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of the head||
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|Abnormality of the vertebral column||
Abnormal vertebral column
Abnormality of the spine
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Radical resections of tumors (removal of all the tumor) with clean margins (with no remaining of the tumor) are associated with a longer period of being disease-free. If the tumor cannot be removed completely, because of the location and closeness to critical delicate structures, the addition of radiation therapy decreases the recurrence of the tumor. Frequent follow-up is needed because of the high rate of recurrence of these tumors. Tumor recurrence identified early is easier to treat. The time in between follow-up visits, including repeat
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.
- MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
- 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 Chordoma. Click on the link to view a sample search on this topic.
- National Cancer Institute. Chordoma research. Genetic Epidemiology Branch. 2011; https://dceg.cancer.gov/geb/research/activeclinical/chordoma.
- Chordoma. Genetics Home Reference. May, 2015; https://ghr.nlm.nih.gov/condition/chordoma.
- Understanding Chordoma. Chordoma Foundation. 2017; https://www.chordomafoundation.org/understanding-chordoma/.
- Palmer CA. Chordoma. Medscape Reference. 2016; https://emedicine.medscape.com/article/250902-overview.
- Lanzino G, Dumont AS, Lopes MB & Laws ER Jr. Skull base chordomas: overview of disease, management options, and outcome. Neurosurgical Focus. 2001; 10:E12. https://www.ncbi.nlm.nih.gov/pubmed/16734404.
- Erdem E, Angtuaco EC, Van Hemert R, Park JS & Al-Mefty O. Comprehensive review of intracranial chordoma. Radiographics. 2003; 23:995-1009. https://www.ncbi.nlm.nih.gov/pubmed/12853676.
- Mendenhall WM, Mendenhall CM, Lewis SB, Villaret DB & Mendenhall NP. Skull base chordoma. Head & Neck. 2005; 27:159-165. https://www.ncbi.nlm.nih.gov/pubmed/15641104.