About the Radboudumc center of expertise
Radboudumc’s center of expertise in rare congenital developmental disorders provides diagnostics, specialist care and scientific research into rare congenital developmental disorders. Various specialists work together under one roof to make sure the care you and your child receive is as effective and efficient as possible.
There is intensive collaboration between experts from the departments of genetics, of medicine for people with intellectual disabilities and various specialists (medical and paramedical) of the Amalia Children's Hospital.
In addition, external care providers offer highly specialized mental health care at our center of expertise. There is intensive collaboration between Radboudumc’s Genetics department, the Vincent van Gogh Top Clinical Center for Neuropsychiatry and with the child and youth psychiatric center Karakter. This allows consultations with the clinical neuropsychologist and child psychiatrist to take place on location at Radboudumc.
National and European recognition
This center of expertise in rare congenital developmental disorders is acknowledged by the Ministry of Health, Welfare and Sport through the Dutch Federation of Universities (NFU) in 2015.
In 2017, this center of expertise also gained recognition within an EU network: the European Referenc Network ITHACA (Intellectual Disabilities, Tele Health And Congenital Abnormalities).
Making an appointmentTo make an appointment at our center of expertise, you need a referral from your general practitioner or medical specialist. The outpatient clinic is located at the outpatient clinic for children and youth (route 788).
Diagnostics: Outpatient clinic KOAL
During the Koala consultation hour, a child with developmental deficiency is simultaneously seen by a pediatric neurologist, a general pediatrician, a metabolic pediatrician and a clinical geneticist.
By combining our knowledge, we try to find out what the cause of a child's developmental deficiency is and we can give advice to the child's practitioner with regard to questions about treatments.
Follow-up: Outpatient clinic Zeldzaam
The outpatient clinic Zeldzaam focuses on the control of children and adults with rare forms of developmental disorder. Zeldzaam is for people who already know the genetic cause of their rare form of developmental disorder. These include Noonan syndrome, Coalen de Vries syndrome, Kleefstra syndrome, KBG syndrome and Prader Willis syndrome.
Children and adults with a rare form of developmental disorder meet with a clinical geneticist and a doctor for the mentally handicapped (AVG) at the outpatient clinic Zeldzaam. In addition, appointments with other specialists can also be scheduled on the same day, depending on the syndrome in question. This will be discussed in advance with the parents/caregiver or the person him or herself.
Participating in researchWe carry out scientific research at our center of expertise. We do this to improve care for our patients. We may ask you or your child to participate in scientific research. Participation is voluntary.
For doctors and researchers
Written referrals can be sent to:
Rare Congenital Developmental Disorders Center
Genetica t.a.v. Expertisecentrum ontwikkelingsstoornissen
6500 HB Nijmegen
T: +31 (0)24 361 39 46
For the Koala Outpatient Clinic and the center of expertise In Prader Willis syndrome, you can address your referral to:
Polikliniek Kinderen en Jeugdigen
Huispost 790 / route 788
6500 HB Nijmegen
T: +31 (0)24 366 85 44
DiagnosticsThese laboratories use a variety of advanced analytical techniques. The aim is to achieve a high-level of service and quality. We strive to expand the range of diagnostic services available by introducing new techniques and diagnostic approaches.
Education on rare developmental disorders is an extensive part of the curricula of Medicine, Biomedical Sciences and Molecular Mechanisms of Disease.
There is also the possibility of internships for medical specialists (in training). We also offer (medical) students the opportunity to carry out scientific research within our center of expertise.
In addition, our center of expertise contributes to basic training, further training and vocational education of medical specialists and general practitioners via Q and A evenings and refresher training symposia.
For training requests, please contact us per email (firstname.lastname@example.org).