What is CHARGE syndrome?
CHARGE syndrome is a condition that is characterized by medical issues in several parts of the body and changes in the development of the brain. The letters forming the condition's name "CHARGE" are an acronym as each letter stands for a specific feature of the condition:
- Coloboma- an abnormality of the eye caused by missing pieces of tissue in structures that form the eyes.
- Heart defects- changes in formation of the heart that can be simple or complex and require surgery at birth
- choAnal atresia- a full blockage of the back of the nasal passage
- gRowth retardation and development- taking longer to reach their developmental and/or growth milestones
- Genonitourinary anomalies- underdevelopment or incomplete development of the genitals
- Ear anomalies- changes in outer ear shape and/or inner ear function seen in CHARGE syndrome.
Having said this, not all individuals with CHARGE syndrome will have all of these medical issues and there are additional physical changes that appear more frequently in people living with the condition.
Originally, the features of CHARGE syndrome were not connected to a specific genetic change, but in 2005 it was determined that changes in the CHD7 gene cause the condition.
Lalani SR, Hefner MA, Belmont JW, et al. CHARGE Syndrome. 2006 Oct 2 [Updated 2012 Feb 2]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from:https://www.ncbi.nlm.nih.gov/books/NBK1117/ Accessed 18JAN2020.
Genetics Home Reference, CHARGE syndrome, edited 07JAN2020 https://ghr.nlm.nih.gov/condition/charge-syndrome Accessed 18JAN2020.