Kinderpolikliniek Klinische Genetica
Department of Pediatrics, Division of hereditary and congenital disorders
Emma Kinderziekenhuis
Amsterdam UMC
Meibergdreef 9
1105 AZ AMSTERDAM
The Netherlands
Blei
Dr Mieke van Haelst
Geltungsbereich
The area of expertise of the Amsterdam Centre of the ITHACA European Reference Network (ERN) covers all syndromes exhibiting developmental anomalies and/or intellectual disability (ID). About 1/40 newborn has a congenital malformation (261/10000 fetuses and newborn following EuroCAt reports), and 1/40 has ID. Therefore, 3 to 5 % of all human births show or will develop a developmental anomaly, among which at least 25-50% are of genetic or genomic origin. This huge population represents in reality the juxtaposition of a very large number of individually rare disorders showing an extreme diversity of causes and phenotypes. The jurisdiction and scope of expertise of the Centre includes:
- über 5.500 dysmorphe und multiple angeborene Anomalien (MCA) (aufgeführt in der London Dysmorphology Database), darunter über 3.000 monogene Erkrankungen, alle Chromosomenanomalien (von denen die meisten nur mittels Array-Technologien nachweisbar sind), multifaktorielle, sporadische dysmorphologische Anomalien sowie Embryo-Fetopathien umweltbedingten Ursprungs
- >1500 monogenic and hundreds chromosomal forms of ID with or without associated autism spectrum disorder (ASD)
Dienst am Patienten
Die Bevölkerung der Region