Expertise centers Rare congenital developmental disorders

About the Radboudumc center of expertise

The center Rare congenital developmental disorders offers optimal care for people with a rare congenital developmental disorder and their families.

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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.


Contact

+31 (0)24 361 39 46
contact

Relevant disorders


About Rare Congenital Developmental Disorders

Within our center of expertise, we have patients with: (read more in Dutch)


Making an appointment

To 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).

Outpatient clinics

Our Center of Expertise contains several multidicplinary outpatient clinics.

about our clinics

Outpatient clinics

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 research

We 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.

Intellectual disabilities Dossier

In the case of an intellectual disability, there is underdevelopment in several areas. This has a major impact on daily life. read more in Dutch

For doctors and researchers


Referrals

General practitioners and specialists can refer patients with (suspected) rare developmental disorders to our center of expertise.

how to make a referral

Referrals

Written referrals can be sent to:
Rare Congenital Developmental Disorders Center
Radboudumc
Genetica t.a.v. Expertisecentrum ontwikkelingsstoornissen
Huispost 836
Postbus 9101
6500 HB Nijmegen
T:  +31 (0)24 361 39 46
E: erfelijkheid@radboudumc.nl
 
For the Koala Outpatient Clinic and the center of expertise In Prader Willis syndrome, you can address your referral to:
Radboudumc
Polikliniek Kinderen en Jeugdigen
Huispost 790 / route 788
Postbus 9101
6500 HB Nijmegen
T: +31 (0)24 366 85 44
E: PoliSpreekuur@cukz.umcn.nl


Diagnostics

Laboraties for genetic and metabolic diagnostics are a part of our Center of Expertise.

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Diagnostics

These 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.

Go to the Genomic Diagnostics Lab


Research

In addition to patient care, our center of expertise also conducts leading international research into rare hereditary development disorders.

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Research

More information about our research
Radboud Institute of Molecular Life Science (RIMLS
Nijmegen Centre for Mitochondrial Disorders (NCMD)
Radboud Institute for Health Science (RIHS)
Donders Centre of Neuroscience (DCN)

Education

Education on rare developmental disorders is an extensive part of the curricula of Medicine, Biomedical Sciences and Molecular Mechanisms of Disease.

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Education

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 (erfelijkheid@radboudumc.nl).