ERN-ITHACA – Essen Center

Institut für Humangenetik
Universitätsklinikum Essen
Universität Duisburg-Essen
Hufelandstrasse 55
D-45122 Essen
GERMANY

Lead

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

Text to come

Organisation of the center

Text to come