Service de génétique
Hôpital  Femme-Mère-Enfant
59 boulevard Pinel

Referral Centre for Developmental Anomalies and Malformation:

Referral Centre for Intellectual Disability:


Dr Massimiliano ROSSI

Telephone: +33 (0)4 27 85 55 73

Fax: +33 (0)4 27 85 52 45


The area of expertise of the Lyon Centre of the ITHACA European Reference Network (ERN) covers all syndromes exhibiting developmental anomalies, including malformation syndromes and/or intellectual disability (ID), from the fetus to adulthood. This includes physical anomalies, neurological abnormalities, behavior disorders, and neurosensory impairments.

About 1/40 newborns has a congenital malformation (261/10000 fetuses and newborns 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 scope of the activity of the Lyon ITHACA Centre includes:

  • over 5500 dysmorphic and multiple congenital anomaly (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 dysmorphic conditions and embryofetopathies of environmental origin
  • >1500 monogenic and hundreds chromosomal forms of ID with or without associated autism spectrum disorder (ASD).

Service to patients

This HCP is located in Lyon, which is the third largest city of France, in the Rhone department including a population of over 1.8 million people. It provides multidisciplinary care for patients and their family, by offering clinical diagnosis, prenatal and postnatal genetic testing, family screening, genetic counselling, neurological and neuropsychological evaluation, management, treatments and follow up.

Organization of the ITHACA ERN – Lyon Centre

The HCP is a consortium including the Referral Centre for Developmental Anomalies and malformation syndromes of the Genetic Department and the Referral Centre for Intellectual Disability of the Child Neurology Department of the Femme-Mère-Enfant hospital in Lyon, which is part of the 2nd largest University Hospital in France (Hospices Civils de Lyon).

The Genetic and Child Neurology departments include:

  • Clinical units providing a fine phenotypic characterization in dysmorphology, neurology, neuropsychology, neurophysiology, psychiatry and pediatrics
  • Laboratory units including a cytogenetic lab with an array-CGH platform and a molecular genetics laboratory with non-invasive prenatal diagnosis and a next-generation sequencing/bioinformatics platform. In 2017, according to the national plan “France Médécine Génomique 2025”, the genomic platform AURAGEN has been set up in Lyon, providing whole genome analysis in a routine diagnostic setting (

The HCP team is particularly involved in developing personalized diagnosis, management and therapies in the field of developmental diseases as well as teaching activities, with a large spectrum of training courses, with a special interest on ethical issues.

The Genetic department includes a research team focusing on neurodevelopmental disorders (Genetics of Neurodevelopment team/GENDEV, Lyon Neuroscience Research Centre/CRNL, INSERM U1028, CNRS UMR 5292 University Lyon1). The Child Neurology department is affiliated to a research team focusing on cognition (L2C2, Institute of Cognitive Sciences, CNRS UMR 5304 University Lyon1).

At a regional and national level:

  • The Lyon CLAD coordinates the inter-regional multi-site SUD-EST PACA referral Centre for developmental abnormalities, including the genetic departments of Grenoble, Saint-Etienne, Clermont-Ferrand, Marseille, Nice and Toulon. Moreover, it contributes actively to the National healthcare network AnDDI-Rares ( concerning patients showing MCA with or without ID.
  • The CRDI coordinates the National healthcare network DéfiScience ( concerning rare diseases characterized by brain development abnormalities and/or intellectual disability.