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Children’s Health Ireland
Cooley Rd, Crumlin,
Dublin D12 N512,
IRELAND
Lead
![](https://ern-ithaca.eu/wp-content/uploads/2022/02/Capture-décran-2022-02-16-à-10.38.39.png)
Scope
The area of expertise of our Centre, as member of the ITHACA European Reference Network (ERN), covers syndromes exhibiting intellectual disability (ID) and/or rare congenital malformations with special interest in different forms of craniofacial malformations. About 1 in 40 newborns have a congenital malformation and up to 2% have or will show ID, caused by different individually rare diseases, among which up to 50% are of genetic or genomic origin. The jurisdiction and scope of expertise of Düsseldorf ITHACA Centre includes:
- over 5500 dysmorphological and multiple congenital anomalies (MCA) syndromes (listed in the London Dysmorphology Database), with monogenic diseases, chromosomal anomalies (detectable through conventional chromosomal analysis and/or CGH-Array technology), multifactorial or sporadic anomalies as well as embryofetopathies of environmental origin
- >1500 monogenic and hundreds chromosomal forms of ID with or without associated autism spectrum disorder (ASD).
Service to patients
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Organisation of the center
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