Clinical Genetics Unit
Department of biology and medical genetics
Motol university hospital – 2nd Medical School Charles University Prague
V Uvalu 84
150 06 PRAHA 5
Czech Republic
Lead
Pr Dr Milan Macek
Telephone: +420 224 433 564
Fax: +420 224 433 520
Scope
The area of expertise of our Centre, as member of the ITHACA European Reference Network (ERN), covers all syndromes exhibiting developmental anomalies and/or intellectual disability (ID). About 1/40 newborn has a congenital malformation (261/10000 fetuses and newborn following EuroCAt reports), and 1/40 has ID. Therefore, 3 to 5 % of all human births show or will develop a developmental anomaly, among which at least 25-50% are of genetic or genomic origin. This huge population represents in reality the juxtaposition of a very large number of individually rare disorders showing an extreme diversity of causes and phenotypes. The jurisdiction and scope of expertise of this ITHACA Centre includes:
- over 5500 dysmorphic and multiple congenital anomalie (MCA) syndromes (listed in the London Dysmorphology Database), among which over 3000 monogenic diseases, all chromosome abnormalities (most of them only detectable through array technologies), multifactorial, sporadic dysmorphological anomalies and embryofetopathies of environmental origin
- >1500 monogenic and hundreds chromosomal forms of ID with or without associated autism spectrum disorder (ASD)
Service to patients
The regional population