Rare Endocrinology News

Disease Profile

Asternia

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

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ICD-10

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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.

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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)

Absent sternum

Categories

Congenital and Genetic Diseases

Summary

Asternia, also known as a complete congenital sternal cleft, is a condition in which a bone called the sternum does not form properly. The sternum usually connects to the ribs to form the ribcage. Individuals with asternia are missing this bone and may appear to have a rut or trench under the skin in the middle of the chest. Most individuals with asternia have no symptoms, though some may have difficulty breathing. Asternia is sometimes associated with other conditions, such as heart problems. The cause of asternia is currently unknown. Treatment consists of surgery to close the gap between the ribs.[1]

Symptoms

Most individuals with asternia do not have symptoms. However, some may have difficulty breathing (dyspnea) or frequent infections of the respiratory tract. Asternia is sometimes associated with other conditions, such as heart problems or skin findings (hemangiomas or skin tags).[1][2]

Treatment

Asternia is treated with surgery. Surgery may be recommended to prevent breathing difficulty and to protect the organs in the chest, particularly the heart.[1][2][5842] The type of surgery depends on the size of the gap between the ribs and the age of the affected individual.[2] Ideally, surgery consists of closing the gap by connecting the existing bones of the chest; this is best done while the affected individual is very young.[1][5842] For older individuals or those with a wide space between the existing bones, surgery may include placing extra material (a prosthesis, made of cartilage or bone from another part of the body or synthetic/man-made materials) to fill the gap.[1][2]

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.

In-Depth Information

  • PubMed is a searchable database of medical literature and lists journal articles that discuss Asternia. Click on the link to view a sample search on this topic.

References

  1. Torre M, Rapuzzi G, Carlucci M, Pio L, Jasonni V. Phenotypic spectrum and management of sternal cleft: literature review and presentation of a new series. European Journal of Cardiothoracic Surgery. 2012; 41:4-9. https://www.ncbi.nlm.nih.gov/pubmed/21737294. Accessed 2/12/2013.
  2. Cardoso E, Sundararajan MS. Asternia with aplasia cutis: a method of repair. Thorax. 1987; 42:829-830. https://www.ncbi.nlm.nih.gov/pubmed/3424262.

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