This image has an empty alt attribute; its file name is Capture-de%CC%81cran-2022-02-16-a%CC%80-11.00.58.png

Madrid Gregorio Maranon Hospital
C. Dr. Esquerdo, 46
28007 Madrid


This image has an empty alt attribute; its file name is Capture-de%CC%81cran-2022-02-16-a%CC%80-10.38.39.png

Dr Jose Luis Escalante

Telephone:  +34 915 86 80 00



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

Organization of the ITHACA ERN – [Name of the Center] Center