Clinique de Génétique médicale Guy Fontaine
Centre de référence maladies rares Anomalies du développement
Hôpital Jeanne de Flandre
59037 Lille Cedex

Clinique de Neuropédiatrie
Centre de référence Malformations et maladies congénitales du cervelet
Hôpital Calmette, bâtiment Paul Boulanger
Boulevard du Pr Jules Leclercq
59037 Lille Cedex


Pr Florence Petit (Hôpital Jeanne de Flandre)

Phone: +33 (0)3 20 44 49 11

Fax: +33 (0)3 20 44 49 01

Dr Audrey Riquet (Clinique de Neuropédiatrie)

Phone: +33 (0)3 20 44 63 85

Fax: +33 (0)3 20 44 63 08


The area of expertise of the Lille Centre 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 actually the addition of a very large number of individually rare disorders showing an extreme diversity of causes and phenotypes. The scope of expertise of Lille ITHACA Centre includes:

  • Over 5500 dysmorphic and multiple congenital anomalies (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
  • Over 1500 monogenic and hundreds chromosomal forms of ID with or without autism spectrum disorder (ASD).

Service to patients

The Centre contributes to the care to patients by offering clinical diagnosis, genetic testing, familial screening, genetic counseling, neuropsychological and neuropsychiatric evaluation, prenatal diagnosis, follow up and coordination of the day care and reeducation of patients, and therapeutic assays in the field of developmental anomalies, in connexion with two National Heathcare networks (AnDDI-Rares and DefiScience).

Organization of the ITHACA ERN – Lille Centre

The University Hospital of Lille (Lille CHU) is providing care for more than 4.2 million inhabitants. Located on one unique campus, it is one of the largest university hospitals in France (over 3000 beds) with one of the biggest maternity wards of France (over 5500 births/year) and pediatric hospitals (over 210 pediatric beds). Lille CHU offers full coverage of general and specialized cares in particular:

  • A Department of clinical genetics offering genetic consultations and coordinated medical, paramedical psychological and social care for children, adults, and pregnant women with developmental anomalies (with or without ID) and their families. This Department is included in a large Bio-Pathology pole with genetic, fetal pathology and other laboratories.
  • A pediatric hospital comprising several departments as those for child neurology (offering multidisciplinary diagnostic and care for ID and ASD children), child endocrinology, child metabolic disorders, pediatric cardiology, child nephrology, pediatric surgery …
  • A department of child psychiatry offering multidisciplinary diagnosis and care for ASD children.
  • Prenatal diagnosis facilities and one of the two regional centers for prenatal diagnosis
  • Full technical support, including classic medical laboratories, medical imaging, biological investigations, electrophysiology, genetic investigation (arrays, NGS), fetal pathology.
  • Strong association with research institutes and several research units

Moreover, owing to the importance of the geographical area and the population covered, the Lille Centre’s team offers decentralized consultations in several hospitals in North of France (Arras, Calais, Dunkerque, Lens and Valenciennes)

Furthermore, it has developed a particular expertise on limb malformation at the clinical and molecular levels, providing diagnosis advices for these malformations to French and Foreign colleagues (over 400/year).

Finally, the Lille Centre has a strong association with teaching (Lille University including Faculty of Medicine, Dental Surgery, Midwives, Physiotherapists …) and research. The centre coordinates a research team on developmental diseases focusing on Limb defects and ID and collaborates with several INSERM or CNRS units.