Other Names for this Disease
- Coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies
- CHARGE association
- Hall-Hittner syndrome
- Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities
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choanal atresia), restricted growth and development, genital abnormality, and ear abnormality. Signs and symptoms vary among affected individuals; however, infants often have multiple life-threatening medical conditions. The diagnosis of CHARGE syndrome is based on a combination of major and minor characteristics. In more than half of all cases, mutations in the CHD7 gene cause CHARGE syndrome. It is inherited in an autosomal dominant pattern; although most cases result from new mutations in the gene and occur in people with no history of the condition in their family.CHARGE syndrome is a condition that affects many areas of the body. CHARGE stands for coloboma, heart defect, atresia choanae (also known as
Last updated: 8/26/2011
- CHARGE syndrome. Genetics Home Reference. May 2008; http://ghr.nlm.nih.gov/condition/charge-syndrome. Accessed 8/26/2011.
- Genetics Home Reference (GHR) contains information on CHARGE syndrome. This website is maintained by the National Library of Medicine.
- 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.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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 CHARGE syndrome. Click on the link to view a sample search on this topic.