The Children’s Memorial Health Institute
Al. Dzieci Polskich 20
04-730 Warsaw
POLAND

Lead

Pr. Dr. Krystyna Chrzanowska

Telephone: +48 22 815 74 52

Fax: +48 22 815 74 57

Mail: K.Chrzanowska@IPCZD.PL

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

Organization of the Center

Text to come