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About us Medical Sciences Research Department of Genetics Research Lines CHARGE syndrome
University Medical Center Groningen

The national multidisciplinary CHARGE clinic

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) occur 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 outpatient clinic?

Shortly after the discovery of the gene involved in CHARGE syndrome, CHD7, we started a national CHARGE outpatient clinic in 2005 in order 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 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 every one to two years by a team of specialists, including at least a clinical geneticist, paediatric endocrinologist, and ENT surgeon, together with a team specialized in communication and language development in children (CSK team). Upon request and based on the patient’s problems, other specialists are also involved in the evaluation and/or in giving advice. A tailor-made programme is offered to the patient at each visit.

The following departments are involved in the CHARGE clinic at the UMCG (Groningen, the Netherlands):

  • Clinical genetics (E. Dulfer, MD and Prof. C. van Ravenswaaij-Arts, MD, PhD)
  • Paediatric endocrinology (G. Bocca, MD)
  • Paediatric infectious diseases and immunology (E.H. Schölvinck, MD, PhD)
  • Paediatric cardiology (G.J. du Marchie Servaas, MD, PhD)
  • Paediatric neurology (D.A. Sival, MD, PhD)
  • Social paediatrics (B. Flapper, MD, PhD)
  • Child and youth psychiatry Accare (L. Kalverdijk, MD and T. Scheers, MD)
  • Ear-nose-throat medicine (R. Free, MD, PhD and F. Coster, PhD)
  • CSK team (A. Pape, PhD and A. Keegstra)
  • Neuroradiology (L.C. Meiners, MD, PhD)
  • Ophthalmology (J.W. Pott, MD, PhD)
  • Gynaecology (M. van den Berg, MD)
  • Endocrinology (Prof. B.H.R. Wolffenbuttel, MD, PhD)
  • Special dentistry (E. Janknegt)

At the beginning of 2013, the clinic has records on almost 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 heart defects, adrenal function, immunological function, adrenal function, growth charts, movement and swallowing disorders linked to neuroradiological abnormalities and neuropathies, and finding new genetic causes by exome sequencing in CHARGE patients without a CHD7 mutation. For more information please see our other webpages on research in CHARGE syndrome.

Other CHARGE clinics

Recently, more CHARGE clinics have been started: in the UK (J. Kirk), France (V. Abadie), Italy (L. Santoro), and Australia (G. Williams). They are based on the Dutch model. 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

Last modified:19 March 2019 12.11 p.m.