EDS

French national reference center for constitutional bone diseases (MOC): non-vascular Ehlers-Danlos syndromes (NV EDS)

The constitutive pediatric site for non-vascular Ehlers-Danlos syndromes (NV EDS), located at the Necker-Enfants malades hospital, was created at the end of 2017 to respond to a growing demand for diagnosis and care for this group of pathologies in pediatric setting. This constitutive site offers dedicated consultations in genetics, joint consultations in physical medicine – rehabilitation and genetics, consultations dedicated to the EDS theme within the palliative medicine / pain unit and consultations available with dedicated correspondents for the possible treatment in other medical and surgical specialties, in particular in orthopedics, dermatology, pneumology and cardiology. It is associated with the adult constitutive site for the NV EDS, located in Garches – Dr Karelle Bénistan – already existing before 2017.

These two constitutive sites were integrated into the constitutional bone diseases (MOC) CRMR, taking into account the similarities between the 2 groups of pathologies in terms of management and the specialties involved. They are affiliated with the OSCAR rare diseases healthcare network and with the BOND and ReCONNECT European reference networks (ERN)

Medical
team

Dr Caroline Michot
MD

Contact us
 

Phone. : +33 (0)1 87 89 20 99

> Send an email

Please come in consultation with:

  • reports from specialists already consulted (in particular genetics, rheumatology and neurology),
  • biological assessments already taken
  • and skeletal x-rays.
  • Classic Ehler-Danlos syndrome
  • Classic-like Ehler-Danlos syndrome
  • Cardiac-valve type Ehler-Danlos syndrome
  • Hypermobile Ehler-Danlos syndrome
  • Arthrochalatic type Ehler-Danlos syndrome
  • Dermatosparaxis type Ehler-Danlos syndrome
  • Kyphoscoliotic Ehler-Danlos syndrome
  • Brittle cornea syndrome
  • Spondylodysplastic type Ehler-Danlos syndrome
  • Kyphoscoliotic Ehler-Danlos syndrome
  • Brittle cornea syndrome
  • Spondylodysplastic-type Ehler-Danlos syndrome
  • Musculocontractural type Ehler-Danlos syndrome
  • Myopathic type Ehler-Danlos syndrome
  • Periodontal type Ehler-Danlos syndrome
En savoir +

En savoir +

SED non vasculaire : diagnostic clinique d'une hyperlaxité articulaire
SED non vasculaire : kinésithérapie
SED non vasculaire : ergothérapie

Caroline Michot, geneticist

Florence Guillou, physical medicine and rehabilitation doctor (MPR)

Emmanuelle Baroux, secretary

Non-vascular Ehlers-Danlos syndromes:

Declarations of interest

For the sake of transparency, prevention and management of conflicts of interest, all participants in the development of a PNDS (coordinator (s), writer (s), members of the working group) must complete a declaration of interest. Declarations of interests are analyzed and taken into account, in order to avoid conflicts of interest, in accordance with the HAS guide « Guide to declarations of interest and management of conflicts of interest ».

Salma Adham

Alexandra Benachi

Karelle Benistan

Jean Claude Bernard

Boris Bienvenu

Marie Christophe Boissier

Damien Bonnet

Dominique Bremond Gignac

Emmanuelle Chaleat Valayer

Benoit Coffin

Martine Cohen Solal

Murielle de la Dure Molla

Caroline de Percin

Xavier Deffieux

Bertrand Dussol

Michel Enjalbert

Michael Fanck

Christian Garreau de Loubresse

Anne Gompel

Christine Guillet

Albert Hagege

Annie Harroche

Roland Jaussaud

Hervé Lefevre

Jeremie Lefevre

Michel Lemoine

Quentin Lisan

Valeria Martinez

Frederic Mercier

Caroline Michot

Silvia Morar

Jean Marc Naccache

Valerie Nivet Antoine

Geoffroy Nourissat

Christophe Orssaud

Yann Parc

Susana Quijano Roy

Annie Rosa

Elise Schaeffer

Denis Tiberghien

Pierre Trouiller

Clinical research

  • SEDCARE study (study title: Study of the impact of CERECARE compression garments in the treatment of Ehhlers-Danlos syndromes (SED)

Fundamental research

  • Hypermobile Ehlers-Danlos syndrome: combination of high throughput assays (« omics ») for molecular elucidation and pathophysiological understanding. Project funded by AFSED. Project carried out within the INSERM UMR_S1163 laboratory « Molecular and physiopathological bases of osteochondrodysplasias », directed by Pr Valérie Cormier-Daire.

2020

Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta.
Johanne Dubail, Perrine Brunelle, Geneviève Baujat, Céline Huber, Mathilde Doyard, Caroline Michot, Pascale Chavassieux, Abdeslam Khairouni, Vicken Topouchian, Sophie Monnot, Eugénie Koumakis, Valérie Cormier-Daire
J Bone Miner Res, 2020 Aug, PMID: 32181939 DOI: 10.1002/jbmr.4011

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
Martin Chevarin, Yannis Duffourd, Rebecca A Barnard, Sébastien Moutton, François Lecoquierre, Fatma Daoud, Paul Kuentz, Caroline Cabret, Julien Thevenon, Elodie Gautier, Patrick Callier, Judith St-Onge, Thibaud Jouan, Didier Lacombe, Marie Ange Delrue, Cyril Goizet, Fanny Morice-Picard, Julien Van-Gils, Arnold Munnich, Stanislas Lyonnet, Valérie Cormier-Daire, Geneviève Baujat, Muriel Holder, Florence Petit, Bruno Leheup, Sylvie Oden, Pierre-Simon Jouk, Gipsy Lopez, David Geneviève, Patrick Collignon, Dominique Martin-Coignard, Aurélia Jacquette, Laurence Perrin, Audrey Putoux, Elisabeth Sarrazin, Khadija Amarof, Isabelle Missotte, Christine Coubes, Sujatha Jagadeesh, Elisabetta Lapi, Florence Demurger, Alice Goldenberg, Martine Doco-Fenzy, Cyril Mignot, Delphine Héron, Nolwenn Jean-Marçais, Alice Masurel, Salima El Chehadeh, Nathalie Marle, Frédéric Hue, Christine Binquet, Gwenaëlle Collod-Beroud, Pauline Arnaud, Nadine Hanna, Catherine Boileau, Guillaume Jondeau, Robert Olaso, Doris Lechner, Charlotte Poe, Mirna Assoum, Virginie Carmignac, Laurence Duplomb, Frédéric Tran Mau-Them, Christophe Philippe, Antonio Vitobello, Ange-Line Bruel, Anne Boland, Jean-François Deleuze, Christel Thauvin-Robinet, Jean-Baptiste Rivière, Brian J O’Roak, Laurence Faivre
J Med Genet, 2020 Jul, PMID: 32277047 DOI: 10.1136/jmedgenet-2019-106425

Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient.
Luisa Marsili, Eline Overwater, Nadine Hanna, Geneviève Baujat, Marieke J H Baars, Catherine Boileau, Dominique Bonneau, Anne Claire Brehin, Yline Capri, Ho Y Cheung, Eelco Dulfer, Marion Gerard, Laurent Gouya, Yvonne Hilhorst-Hofstee, Arjan C Houweling, Bertrand Isidor, Lauriane Le Gloan, Leonie A Menke, Sylvie Odent, Fanny Morice-Picard, Clemence Vanlerberghe, Els Voorhoeve, J Peter van Tintelen, Alessandra Maugeri, Pauline Arnaud
Clin Genet, 2020 May, PMID: 31898322 DOI: 10.1111/cge.13700

Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies.
Walid Haouari, Johanne Dubail, Samra Lounis-Ouaras, Pierre Prada, Rizk Bennani, Charles Roseau, Céline Huber, Alexandra Afenjar, Estelle Colin, Sandrine Vuillaumier-Barrot, Nathalie Seta, François Foulquier, Christian Poüs, Valérie Cormier-Daire, Arnaud Bruneel
J Inherit Metab Dis, 2020 Nov, PMID: 32700771 DOI: 10.1002/jimd.12291

Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism.
Nadja Ehmke, Kristina Cusmano-Ozog, Rainer Koenig, Manuel Holtgrewe, Banu Nur, Ercan Mihci, Holly Babcock, Claudia Gonzaga-Jauregui, John D Overton, Jing Xiao, Ariel F Martinez, Maximilian Muenke, Alexander Balzer, Judith Jochim, Naji El Choubassi, Björn Fischer-Zirnsak, Céline Huber, Uwe Kornak, Sarah H Elsea, Valérie Cormier-Daire, Carlos R Ferreira
Bone, 2020 Apr, PMID: 31923704 DOI: 10.1016/j.bone.2019.115219

The pediatric constitutive site for NV EDS is based on a national network of competence centers spread over the whole of the national territory: 14 competence centers dedicated to MOCs and integrating the NV EDS activity and 1 dedicated only to NV EDS in Perpignan. This allows easy access to care and the most optimal use of everyone’s skills and resources.

What are non-vascular Ehlers-Danlos syndromes?
Rare à l’écoute | 07.13.2021

What are non-vascular Ehlers-Danlos syndromes? What are the main warning symptoms that can lead to this diagnosis? What are the differential diagnoses to be ruled out? How to establish the diagnosis? What are the first-line examinations that the attending physician can perform before referring patients to a reference centre? Dr Caroline Michot, geneticist, hospital practitioner at the Necker-Enfants malades hospital and coordinator of the recent National diagnostic and care protocols (PNDS) on non-vascular Ehlers-Danlos Syndromes under the aegis of the OSCAR network, answers your questions.
> Listen to the podcast

Ehlers-Danlos diseases: « These syndromes affect the structure of the body »
Le Parisien | 06.11.2019

A meeting will be held this wednesday at the Ministry of Health to discuss better care for patients with Ehlers-Danlos syndrome. Caroline Michot, geneticist at the Parisian Necker hospital, explains what this evolving genetic pathology is.
> Read more

Focus on Non-Vascular Ehlers-Danlos syndromes

What is Non-Vascular Ehlers-Danlos syndromes?

What is Non-Vascular Ehlers-Danlos Syndromes? What are the main warning symptoms that can lead to this diagnosis? What are the differential diagnoses to be ruled out? How to establish the diagnosis? What are the first-line examinations that the attending physician can perform before referring patients to a reference center?
Dr Caroline Michot, geneticist, hospital practitioner at the Necker-Enfants malades hospital and coordinator of the recent PNDS on non-vascular Ehlers-Danlos Syndromes under the aegis of the OSCAR network, answers the questions.
> Listen to the podcast

Diagnosing Non-Vascular Ehlers-Danlos syndromes

What are the warning signs that should lead one to think of generalized joint hyperlaxity? How to measure hyperlaxity? When faced with a patient suffering from hyperlaxity, what are the symptoms that may suggest Ehlers-Danlos syndrome? What are the first-line diagnostic tests to be carried out before referring these patients to an expert centre?
Dr Fabrice Gillas, sports physician, hospital practitioner at the non-vascular Ehlers-Danlos syndrome reference center at the Raymond-Poincaré hospital in Garches, answers these questions.
> Listen to the podcast

Managing Non-Vascular Ehlers-Danlos syndromes

What is the osteoarticular management of non-vascular Ehlers-Danlos syndromes? What role does therapeutic education play in the management of patients; how can it be integrated into the care plan? In case of suspicion or diagnosis of Non-Vascular Ehlers-Danlos Syndrome, why should practitioners be advised to refer patients to an expert centre?
Dr Karelle Bénistan, clinical doctor, head of the rare disease consultations at the Non-Vascular Ehlers-Danlos syndrome reference center at the Raymond-Poincaré Hospital in Garches and coordinator of the recent PNDS on Non-Vascular Ehlers-Danlos syndromes under the aegis of the OSCAR network, answers the questions.
> Listen to the podcast

Living with Non-Vascular Ehlers-Danlos syndrome

How do the first symptoms of the disease occur? What is the experience of diagnostic errancy? The announcement of a diagnosis? What is the role of an expert patient? What are the objectives of the UNSED association (National Union for Ehlers-Danlos syndromes)?
Mrs Gisclard, expert patient – resource, suffering from Hypermobile Ehlers-Danlos syndrome, representative of health users and president of the association UNSED – National Union for Ehlers-Danlos syndromes, answers questions.
> Listen to the podcast

Contact information

Necker-Enfants malades university hospital
> Molecular genetics department

149 rue de Sèvres
75743 PARIS Cedex 15

In Necker, the reference center for non-vascular Ehlers-Danlos syndromes (SED NV) in brief …

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patients followed at least once a year*
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medical consultations*
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day hospitalizations*
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fully hospitalized patients*
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current research project*
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university course*
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publications*

* data valid for 2020