ERN-ITHACA – Coimbra Centre

Lead: Dr Lina Ramos

Serviço de Genética Médica

Hospital Pediátrico – Centro Hospitalar e Universitário de Coimbra

Centro Hospitalar e Universitário de Coimbra

Quinta dos Vales

3041-801 COIMBRA

PORTUGAL

Contact

Telephone: +351 239 480 638

Fax: 351 239 717 216

eMail: genetic@chc.min-saude.pt

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)

The regional population covered by the Centre…

Service to patients

The regional population

Organization of the Centre

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