The Centre of Expertise for CHARGE syndrome

The CHARGE centre is part of the Centre of Expertise Uniek for rare NeuroDevelopmentalDisorders

Our aim: to improve knowledge on CHARGE syndrome

What is CHARGE syndrome?

CHARGE syndrome (OMIM 214800) is a variable, multiple congenital anomaly syndrome. It occurs in approximately 6 per 100,000 newborns. CHARGE is an acronym for six clinical features Coloboma, Heart defects, Atresia of choanae, Retardation of growth and/or development, Genital hypoplasia, and Ear anomalies often associated with hearing loss. Other clinical features can be present in CHARGE syndrome as well. Cranial nerve dysfunction (V, VII, VIII, IX, X) occurs frequently and semicircular canal anomalies (leading to balance disturbance) are present in almost all CHARGE patients. Other clinical findings are: anosmia (inability to smell), renal abnormalities and cleft lip/palate.

In 2004 the CHD7 (Chromodomain Helicase DNA binding protein 7) gene was discovered to be the major gene involved in CHARGE syndrome. CHD7 mutations are found in over 90% of typical CHARGE patients.

What is the CHARGE centre of expertise?

Shortly after the discovery of the gene involved in CHARGE syndrome, CHD7, we started a national CHARGE outpatient clinic in 2005 to optimize multidisciplinary medical care for this group of complex patients. Initially, the clinic was located in the UMC St Radboud Nijmegen, but in 2006 it moved to the UMCG (University Medical Centre Groningen) in Groningen.

The clinic aims to coordinate the care for children and young adults with CHARGE syndrome and functions as a centre of expertise. All patients are seen by a team of specialists. A tailor-made programme is offered to the patient at each visit. The medical specialists involved in the CHARGE centre can be found at the UMCG website.

At the beginning of 2024, the clinic has records on over 100 CHARGE patients, most of whom are still being followed and seen at intervals of one or two years. This has led to an enormous amount of practical experience with the syndrome. The clinic facilitates scientific research on CHARGE syndrome: at the moment we are focusing on growth charts, puberty induction and early motor development. For more information please see our other webpages on research in CHARGE syndrome.

Other CHARGE clinics

CHARGE clinics can also be found in the UK (J. Kirk), France (V. Abadie), Italy (L. Santoro), and Australia (G. Williams). In addition, there are medical specialists with expertise in CHARGE syndrome in Germany (H. Dörr), Denmark (L. Tranebjærg), USA (M. Hefner), and Canada (K. Blake).

Useful links

• Dutch patient organisations:  www.chargesyndroom.nl
• International patient organisation
• Dutch guideline for CHARGE syndrome
• Recommendations for CHD7 sequencing
• CHD7 database: www.CHD7.org
• Website of CHARGE centre of expertise (in Dutch)