Riga Children’s University Hospital
Vienības gat. 45
Zemgales priekšpilsēta
Rīga, LV-1004
LATVIA
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
ERN ITHACA Latvia covers prenatal genetic diagnostics, postnatal genetic diagnostics and multidiciplinar approach to patients with rare disease.
Organisation of the center
The Cener of Rare Diseases is a part of The Clinic of Medical Genetics and Prenatal Diagnostics in The Childrens University Hospital, Latvia.
All the children and adults (including pregnant women) with genetically determinated diseases are reffered to our center in National level, collaborating with 15 ERN in The Childrens University Hospital (in AP and HCP level).
The Center of Rare Disease ensures cooperation with all Clinical University Hospitals in Latvia in order to organize a multidisciplinary approach to patients with rare diseases