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Achondrogenesis

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Overview


Achondrogenesis is a group of severe disorders that are present from birth and affect the development of cartilage and bone. Infants with achondrogenesis usually have a small body, short arms and legs, and other skeletal abnormalities that cause life-threatening complications.[1]  There are at least three forms of achondrogenesis, type 1A, type 1B and type 2, which are distinguished by signs and symptoms, pattern of inheritance, and the results of imaging studies such as x-rays (radiology), tissue analysis (histology), and genetic testing. [2] Type 1A and 1B achondrogenesis are both inherited in an autosomal recessive pattern.  Type 1B may be caused by mutations in the SLC26A2 gene.  Type 2 achondrogenesis is inherited in an autosomal dominant pattern and is caused by new (de novo) mutations in the COL2A1 gene.[1]


References

  1. Achondrogenesis. Genetic Home Reference. http://ghr.nlm.nih.gov/condition/achondrogenesis. Accessed October 25, 2010.
  2. Faivre L. and Cormier-Daire V.. Achondrogenesis. Orphanet. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=932. Accessed October 24, 2010.
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General Information

  • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss the different types of achondrogenesis. Click on the links below to go to OMIM and review these resources.
    Achondrogenesis type 1A
    Achondrogenesis type 1B
    Achondrogenesis type 2
  • Genetics Home Reference (GHR) contains information on Achondrogenesis. Click on the link to go to GHR and review the information.
  • MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this information.
  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Achondrogenesis. Click on the link to view a sample search on this topic.