Background: CHARGE syndrome is a rare congenital condition with multiple malformations. The acronym CHARGE summarizes six cardinal features: Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital anomalies and Ear anomalies/deafness. Our aim is to present an update on clinical presentation, genetics and behavioural aspects in the CHARGE syndrome. Furthermore, we give recommendations regarding multidisciplinary management.
Material and method: The article is based on selected references retrieved from PubMed and the authors' own experience in following this patient group.
Results and interpretation: The CHARGE syndrome has an estimated incidence of 1 : 10 000. About 60 % of the patients have mutations in a recently characterized gene ( CHD7: ). C: oloboma, C: hoanal atresia and abnormal semicircular C:anals (3C-triad) are the most specific malformations. Serious cardiovascular and respiratory tract malformations also occur frequently and may be life-threatening, especially in the first year of life. Multiple cranial nerve dysfunctions affect sense of smell, swallowing, facial palsy and sensorineural hearing loss. CHARGE syndrome is recognized as one of the most common causes of dual sensory impairment (vision and hearing). Mental retardation is common, but a substantial group of patients only have limited intellectual impairment. Some patients have a distinct behavioural profile and specific cognitive problems. Coordinated multidisciplinary medical follow-up is needed. The combined sensory loss may render the rehabilitation offered for deaf and blind useful for these patients.