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« Genetics is transversal and covers all paediatric disciplines. Our activities concentrate on rare diseases. In the future genetics will also be able to explain more common diseases. » Professor Guillaume Smits, director of the ULB Center of Human Genetics.

Our specialities

The HUDERF's Genetics Department offers consultations for all children with a suspected genetic disorder and who may present, for example, one of more malformations at birth, delay in the various stages of motor and/or cognitive development, autistic disorders, unexplained epilepsy, growth problems, deafness or any other rare and unexplained disorder. In most cases it is the doctor who follows up the child (paediatrician, neuropaediatrician, orthopaedist, endocrinologist, ENT specialist, ophthalmologist, metabolism disorder specialist, GP, etc.) who attends the genetic consultation, but as a patient you are free to take the initiative yourself.  

Genetics makes it possible to refine the diagnosis, avoid the development and/or certain complications of the disease and even propose a treatment. 

The HUDERF Genetics Clinic consists of a multidisciplinary team that includes clinical geneticists, a psychologist, a bio-analyst and a paediatric assistant. 

The department specialises in:

Rare diseases, congenital syndromes, neuropaediatrics, child psychiatry, endocrinology, the metabolism, dermatology, ENT, ophthalmology, cardiology, pneumology, gastroenterology, orthopaedics, rheumatology, haemato-immuno-oncology, etc. 

Our medical specialists


Our medical specialists


Focus: Rare Diseases Function (FMR)

The "Rare Diseases Function (FMR)" cares for patients with rare diseases. Such cases require a rapid diagnosis, follow up, and transfer of patients to the care units most suitable for treating their pathology. Academic hospitals with a Genetics Centre can provide an FMR. The HUDERF (for rare diseases and cancers in children), the Erasmus Hospital (rare diseases in adults), and the Jules Bordet Institute (rare cancers in adults) are the 3 partner hospitals of the Genetic Centre for FMR. These hospitals participate in many ERNs. 


Lien vers Array

Evaluation of neurodevelopmental symptoms in 10 cases of neonatal ichthyosis and sclerosing cholangitis syndrome.

  • Auteurs : Deborah Salik, Smail Hadj-Rabia, Daniel Hohl, Hassan Vahidnezhad, Leila Youssefian, Adèle Rakosi, Chantal Dangoisse, Martina Marangoni, Catheline Vilain, Guillaume Smits
  • Journal : Pediatr Dermatol. 2022 Jul;39(4):590-593. PMID 35304779.
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Digestive involvement in a severe form of Snyder-Robinson syndrome: Possible expansion of the phenotype.

  • Auteurs : Pauline Dontaine, Elisa Kottos, Martine Dassonville, Ovidiu Balasel, Véronique Catros, Julie Soblet, Pascale Perlot, Catheline Vilain
  • Journal : Eur J Med Genet. 2021 Jan;64(1):104097. PMID 33186760. 
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Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability.

  • Auteurs : Claudio Reggiani, Sandra Coppens, Tayeb Sekhara, Ivan Dimov, Bruno Pichon, Nicolas Lufin, Marie-Claude Addor, Elga Fabia Belligni, Maria Cristina Digilio, Flavio Faletra, Giovanni Battista Ferrero, Marion Gerard, Bertrand Isidor, Shelagh Joss, Florence Niel-Bütschi, Maria Dolores Perrone, Florence Petit, Alessandra Renieri, Serge Romana, Alexandra Topa, Joris Robert Vermeesch, Tom Lenaerts, Georges Casimir, Marc Abramowicz, Gianluca Bontempi, Catheline Vilain, Nicolas Deconinck, Guillaume Smits
  • Journal : Genome Med. 2017 Jul 19;9(1):67. PMID 28724449
Lien vers Array

FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly

  • Auteurs : Nicolas Simonis, Isabelle Migeotte, Nelle Lambert, Camille Perazzolo, Deepthi C de Silva, Boyan Dimitrov, Claudine Heinrichs, Sandra Janssens, Bronwyn Kerr, Geert Mortier, Guy Van Vliet, Philippe Lepage, Georges Casimir, Marc Abramowicz, Guillaume Smits, Catheline Vilain
  • Journal : J Med Genet. 2013 Sep;50(9):585-92. PMID 23812909