2021 final agenda

Program at a glance

Available Early Septembre

Available after the meeting

2021’s Edition Guests

This year we will have the pleasure to welcome, for a 45 min presentation for each one:

“Angelman syndrome”

“Dysmorphology where do we come from and where are we going in the 21st century”

“Further delineation of the normal fetal face”

“Genetic & epigenetic control of limb development and its anomalies”

“State of the art in 16p11.2 rearrangements”

“Epigenetic signatures in syndromes”

September 25th 6:00 PM

2021’s Best Presentation Prize!

Thursday 23 September

Session chair : Alain Verloes 

  • 08H15 : Claude Stoll – “Associated Anomalies in cases with oral clefts”
  • 09h00: Auriane Cospin – “FOSL2 stop mutations in the last exon cause a recognizable phenotype of scalp defect and enamel defects: description of 9 patients”
  • 09h15 : Agnès Bloch-Zupan – “A novel homozygous variant in GJA1 causing a Hallermann-Streiff/OculoDentoDigital Dysplasia overlapping phenotype: a clinical report”
  • 09h30 : Candy Kumps – ” Pathogenic variants in CDH11 cause Teebi hypertelorism syndrome”
  • 09h45 : Marcello Niceta– “SCUBE3 loss-of-function causes a recognizable developmental disorder due to defective bone morphogenetic protein (BMP) signaling”
  • 10h00 : Dagmar Wieczorek – “The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype”
  • 10h15 : Caroline Rooryc – “Genetic bases of Goldenhar syndrome or Oculo-Auriculo-Vertebral Spectrum: update”
  • 10h30 : Break 

Talk 1

  • 10h45: Emamnuelle Lesieur – “Further delineation of the normal fetal face”
  • 11h30 : break

Session chair : Dagmar Wieczorek

  • 11h45 : Stefanie Van de Voorde – “Focal facial dermal dysplasia type IV”
  • 12h00: Lara Valeri – “Recessive progressive symmetric erythrokeratoderma due to a compound heterozygous mutation in the KDSR gene”
  • 12h15 : Yao Wang – “First case report of complete paternal isodisomy of Chromosome 10 harboring a novel variant in COL17A1 of non-Herlitz Junctional Epidermolysis bullosa”
  • 12h45 : Ana Grangeia – “Searching for pathogenic variants in newly discovered disease genes: expanding the phenotype of TRAF7 developmental syndrome”
  • 13h : lunch break 

Session chair : Emilia K Bijlsma

  • 14h00 : Mio Aerden – “Novel heterozygous missense mutation in the kinesin motor domain of KIF22 causing spondyloepimetaphyseal dysplasia with joint laxity (semdjl), leptodactylic type, in a boy and a mother”
  • 14h15  : Alain Verloes – “Autoimmune disorder in a patient with Rubinstein-Taybi-like disorder and BCL11B frameshift variant”
  • 14h30 : Sophie Uyttebroeck – “Novel PIEZO2 mutation in a newborn with congenital arthrogryposis multiplex”
  • 14h45 : Céline Schmit – “NIHF – PIEZO1 mutations underdiagnosed ?”
  • 15h00 : Christine Fauth – “Perinatal lethal course of Alkuraya-Kucinskas syndrome in a newborn with arthrogryposis, multiple pterygia and brain abnormalities”
  • 15h15  : Stefano Giuseppe Carafi – “Xq22.1 Microdeletion i na girl with developmental delay and epilepsy : towards the definition of a critical region”
  • 15h30 : Break 

Talk 2

  • 15h45 : John Graham  – “Dysmorphology: Where have we come from and where are we going in the 21st century?”

Session chair : Livia Garavelli

  • 16h45 : Maud Favier – “Fetal phenotype of cardio-urogenital syndrome caused by haploinsufficiency of MYRF”
  • 17h00 : Stéphanie Moortgat – “Expanding the phenotype related to de novo missense variant in HNRNPH2”
  • 17h15 : Sandra Whalen – “Description of six novel patients with glyt1 encephalopathy and biallelic pathogenic variants of slc6a9 gene: from severe fetal form to long-term survival”
  • 17h30 : Isabelle Maystadt  – “Clinical and molecular characterization of 4 additional patients with tbl1xr1 mutation”

Session chair : Isabelle Maystadt 

  • 17.55 :   Marketa Vlckova – « A boy with phenotype similar to Cornelia deLange syndrome »
  • 18.05 :   Mariana Neves – « An inconclusive case of syndromic intellectual disability with tetralogy of fallot and dysmorphisms »
  • 18.15 :   S.Zeidler – « An unknown case of a male with intellectual disability and dysmorphic features »
  • 18.25 :   Raquel Gouveia Silva – « Clinical case – trying to find a diagnosis »
  • 18.35 :  Special lecture – « Looking back at the end of my carreer Connie Stumpel  old syndromes and new genes »
  • 18h50 : End of the day

Friday 24 September

Session Chair : Anita Rauch         

  • 08h45 : Hellen Lesmann – « Gestaltmatcher DB: labeled medical imaging data for deep learning on monogenic phenotypes »
  • 09h00 : Gerrye Mubungu – « Objective evaluation of dysmorphism by automated analysis of facial photographs »
  • 09h15 : Koen Devriendt  – « Objective evaluation of facial features in Congolese newborns by facial measurements. An exploratory study »
  • 09h30 : Bernt Popp – « Curation of neurodevelopmental disorder entities in the sysid and sysndd databases »
  • 09h45 : Silvia Kalantari – « Kosaki syndrome: a new overgrowth syndrome with therapeutic perspectives »
  • 10h00 : Sinem Kocagi – « A Novel Frameshit Variant in a Patient with CHD8-Related Overgrowth syndrome »
  • 10h15 : Lukas Ryba – « Male patient with alg13 associated congenital disorder of glycosylation »
  • 10h30 : Break  

Talk 3

  • 10h45 : Alexandre Reymond – “State of the art in 16p11.2 rearrangements”
  • 11h30 : Break

Session Chair : Connie Schrander            

  • 11h45 : Makay Bambi Prince – « Perching syndrome: Clinical presentation of the first African patient »
  • 12h00 : Kai Muru –« ATAD3A variants in two brothers with bilateral congenital cataract »
  • 12h15 : Elisa Rahikkala – « Expanding the phenotypic and genotypic spectrum of nfia-related disorder spectrum »
  • 12h30 : Raquel Gouveia Silva – « Reverse phenotyping in a patient with a novel pathogenic variant in fbx011 gene »
  • 12h45 : Annick Toutain – « A homozygous missense loss-of-function variant in amyloid-beta precursor protein (app) may cause severe intellectual disability »
  • 13h00 : Lunch Break       

Session Chair: Annick Toutain   

  • 14h00 : Nathalie Veyt – « Trisomy 8 and nipt: a challenge »
  • 14h15 : Saskia Bulk – « Thalidomide embryopathy. forgotten but not gone »
  • 14h30 : Emilia K Bijlsma – « Reanalysis of snp analysis data in patients with neurodevelopmental delay »
  • 14h45 : Stoyanova Milena – « 10 years’ experience in the search of a probable genetic condition among children – single center study »
  • 15h00 : Francesc Palau – « Translational diagnostics program, an innovative hospital approach to genetic diagnosis of rare neurodevelopmental disorders »
  • 15h15 : Julia Schmidt – « Familial cleft tongue caused by a unique translation initiation codon variant in tp63 »
  • 15h30 : Break                   

Talk 4

  • 15h45 : Jill Clayton-Smith –  “Angelman Syndrome”
  • 16h30: Break

Session Chair : Hilde Van Esch

  • 16h45 : Didier Lacombe  – «  Alteration of mitochondrial proteostasis and bioenergetics in costello syndrome »
  • 17h00 : Škrjanec Pušenjak Marusa – « NOVEL 10-nucleotide deletion in hras gene in a girl with clinical features consistent with costello syndrome »
  • 17h15 : Livia Garavelli – « Sequential somatic hras mutation and gene duplication in a patient with epidermal nevus and rhabdomyosarcoma: further evidence of a two-hit pathogenetic mechanism contributing to oncogenic transformation »
  • 17h30 : Ho-Ming Luk – « Diagnostic Odyssey in a Chinese patient with Rasopathy »
  • 17h44 : Break                   

Session Chair : Didier Lacombe 

  • 17h55 : Moneef  Shoukier – « How many mutations are necessary for diagnosis ? »
  • 18h05 : Katalin Szakszon – « Unsolved case: Intellectual deficit with marked facial dysmophism, abducent paresis »
  • 18h15 : Marzia Pollazzon – « The hard differential diagnosis of ectodermal dysplasias »
  • 18h25 : Alessandro Mauro Spinelli – « Unclassified facial dysostosis, “atypical” vascular eds, both or none? »
  • 18h35 : QUIZZ by Damien Lederer – « 15 minutes: Male genital abnormalities in clinical genetics, a quizz »
  • 18h50: End of the Day

Saturday 25 September

Session Chair : Jurgen Kohlhase        

  • 08h45 : Malou Schadeck – « Desanto-shinawi syndrome in a 3 year-old child with psychomotor development delay and cmt1a disease »
  • 09h00 : Maria Francesca bedeschi– « A case of atypical Cornelia del Lange phenotype associated with a PHIP variant and a MYH7-related cardiomyopathy »
  • 09h15 : Ariane Schmetz  – « Schwartz-jampel syndrome: three sisters with an additional cardiac phenotype »
  • 09h30 : Alice Vasconcelos – « A case of overlapping noonan and marfan syndromes »
  • 09h45 : Karolina śledzinska – « Common dilemma in uncommon disorders: patient presenting with symptoms of two rare diseases or atypical presentation of one rare disorder »
  • 10h00 : Elise Pisan – « Familial thymoma in twins with koolen-de vries syndrome »
  • 10h15 : Francesca Peluso – « Whole exome sequencing is the minimal technological approach in probands born to consanguineous couples »
  • 10h30 : Break

Talk 5

  • 10h45 : Florence Petit – “Genetic & epigenetic control of limb development and its anomalies”
  • 11h30 : Break                                   

Session Chair : Christiane Zweier                              

  • 11h45 : Aušra matulevičienė – « Two cases of pitt – hopkins syndrome »
  • 12h00 : Antje Kampmeier  – « Two compound heterozygous novel missense variants in spart cause mitochondrial dysfunction and cell cycle arrest associated with troyer syndrome »
  • 12h15 : Catarina Isabel Torrão – « A novel variant in pogz in a boy with white-sutton SYNDROME »
  • 12h30 : Maria K. Haanpaa – « Expanding the genotypic and phenotypic spectrum OF A RARE HGPPS2 SYNDROME »
  • 12h45 : Gianluca Contro  – « A case of lissencephaly due to a variation in the cep85l gene: case report , clinical and molecular aspects »
  • 13h00 : Lunch Break      

                              

Session Chair : Claude Stoll                                        

  • 14h00 : Camille J. Engel – « The phenotypic spectrum of brat1-related disorders : 51 additionnal cases and litterature review «
  • 14h15 : Katalin Szakszon – « A distinctive primordial dwarfism syndrome caused by prim1 deficiency »
  • 14h30 : Christiane Zweier – « De novo variants in med12 cause x-linked syndromic neurodevelopmental disorders in females »
  • 14h45 : Celine Gerber – « Further characterization of female Borjeson-Forssman-Lehmann syndrome caused by de novo variants in PHF6 »
  • 15h00 : Irene Valenzuela –  « RNU4ATAC biallelic mutations: from roifman syndrome to microcephalic osteodysplastic primordial dwarfism, type i (mopd1). Description of four new patients »
  • 15h15 : Alma Kuechler –  « PHIP-associated chung-jansen syndrome: report of four new individuals »
  • 15h30 : Break   

Talk 6

  • 15h45 : Bekim Sadikovik – ” Epigenetic signatures in syndromes”
  • 16h30 : Break   

Session Chair : Claude Stoll

  • 16h45 : Claire Cornips – « Heterozygous variants in kdm2b cause a neurodevelopmental syndrome with variable congenital anomalies and a specific dna methylation signature »
  • 17h00 : Francesca Clementina Radio – « Spen haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of x chromosomes in females »
  • 17h15 : Paolo Zanoni – « Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype »
  • 17h30 : Alexandre Astier –« Episignature analysis in 4 patients broadens the clinical spectrum of atrx syndrome »
  • 17h45 : Break

Session Chair : Koen Devriendt 

  • 17h55  : Kamilė Šiaurytė – « Unknown case with complex heart, neurological and skeletal pathology »
  • 18h00 : Milena Stoyanova – « Unsolved case »
  • 18h15  : Anaïs Begemann – « Vanishing bones, muscle weakness, primary microcephaly and short stature with normal cognitive development in a 4-year-old girl with consanguineous turkish parents »
  • 18h25 : Best presentation prize                                             
  • 18h30 : Closure of the meeting & announcements