ERN-ITHACA – Amsterdam Centre

Lead:  Dr Leonie A. MENKE

Kinderpolikliniek Klinische Genetica

Department of Pediatrics, Division of hereditary and congenital disorders

Emma Kinderziekenhuis

Amsterdam UMC

Meibergdreef 9

1105 AZ AMSTERDAM

The Netherlands

Contact

Telephone: +31 (0)20 566 8000

Fax:

eMail:

Scope

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:

  • over 5500 dysmorphic and multiple congenital anomalie (MCA) syndromes (listed in the London Dysmorphology Database), among which over 3000 monogenic diseases, all chromosome abnormalities (most of them only detectable through array technologies), multifactorial, sporadic dysmorphological anomalies and embryofetopathies of environmental origin
  • >1500 monogenic and hundreds chromosomal forms of ID with or without associated autism spectrum disorder (ASD)

The regional population covered by the Amsterdam Centre…

Service to patients

The regional population

Organization

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