CHARGE (coloboma of the eye, heart defects, choanal atresia, retarded growth and 
development, genital hypoplasia and ear anomalies and/or hearing loss) syndrome 
is a rare genetic, multiple-malformation syndrome. About 80% of patients with a 
clinical diagnose, have a mutation or a deletion in the gene encoding 
chromodomain helicase DNA-binding protein 7 (CHD7). Genotype-phenotype 
correlation is only partly known. In this nationwide study, phenotypic 
characteristics of 18 Danish CHD7 mutation positive CHARGE individuals (N = 18) 
are presented. We studied patient records, clinical photographs, computed 
tomography, and magnetic resonance imaging (MRI). Information was not available 
for all traits in all subjects. Therefore, the results are presented as 
fractions. The following prevalence of cardinal symptoms were found: coloboma, 
16/17; heart defects, 14/18; choanal atresia, 7/17; retarded growth and 
development, 11/13; genital abnormalities, 5/18; ear anomalies, 15/17 and 
sensorineural hearing loss, 14/15. Vestibular dysfunction (10/13) and swallowing 
problems (12/15) were other frequent cranial nerve dysfunctions. 
Three-dimensional reconstructions of MRI scans showed temporal bone 
abnormalities in >85%. CHARGE syndrome present a broad phenotypic spectrum, 
although some clinical features are more frequently occurring than others. Here, 
we suggest that genetic testing for CHD7 mutation should be considered in 
neonates with a specific combination of several clinical symptoms.