"C: coloboma"
"H: heart defects"
"A: atresia choanae"
"R: retarded growth and development"
"G: genital hypoplasia"
"E: ear abnormalities and/or deafness"
"CHARGE syndrome is a phenotype associated with a CHD7 gene mutation originally defined by a constellation of congenital anomalies:"
"Most cases are sporadic, but there are occasional autosomal dominant forms. Approximately two-thirds of cases are caused by a defect in the CHD7 (chromodomain helicase DNA-binding protein 7) gene on chromosome 8 4,7."
"This constellation of pathology was initially described by B D Hall and independently by H M Hittner in 1979. The term "CHARGE" was first coined by R A Pagon to describe an association between the symptoms, and subsequent work isolated a common genetic defect seen in 60% of individuals: the CHD7 defect."
"H: heart defects"
"A: atresia choanae"
"R: retarded growth and development"
"G: genital hypoplasia"
"E: ear abnormalities and/or deafness"
"Mondini malformation"
Expected headings
"Major criteria"
"Minor criteria"