{"id":22,"date":"2023-07-07T09:05:20","date_gmt":"2023-07-07T09:05:20","guid":{"rendered":"https:\/\/achdsepatient-dev-001.azurewebsites.net\/en-us\/?page_id=22"},"modified":"2025-07-28T14:02:05","modified_gmt":"2025-07-28T14:02:05","slug":"what-is-achondroplasia","status":"publish","type":"page","link":"https:\/\/achondroplasia.biomarin.com\/fr-fr\/what-is-achondroplasia\/","title":{"rendered":"What is achondroplasia?"},"content":{"rendered":"
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Qu’est-ce que l’achondroplasie?\n<\/h1>\n\t\t\t\t\t\t\t\t\t\t\t\t

L\u2019achondroplasie est la cause la plus fr\u00e9quente de nanisme (ou petite taille). L’une des principales choses \u00e0 savoir, c\u2019est qu\u2019il ne s\u2019agit pas que d\u2019une histoire de taille<\/strong>.<\/p>\n\t\t\t\t\t\t\t\t\n

\n \t\t\t\t TELECHARGER LA FICHE D’INFORMATION <\/a>\t\t\t\t <\/p>\n\t\t\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n\n

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L’achondroplasie est<\/h2>\n

une forme de dysplasie squelettique (une maladie qui affecte les os et le cartilage). Bien que les effets soient plus visibles au niveau des bras, des jambes et du visage, presque tous les os du corps sont touch\u00e9s. Les cons\u00e9quences sont importantes et peuvent \u00eatre \u00e0 l’origine de complications graves et \u00e9volutives tout au long de la vie. Mais malgr\u00e9 cela, l’achondroplasie ne doit pas emp\u00eacher les personnes qui en sont atteintes d’\u00eatre heureuses et \u00e9panouies.<\/p>\n <\/div>\n <\/div>\n <\/div>\n<\/div>\n\n

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RARE\n<\/h3>\n

L’achondroplasie touche 1 enfant sur 25 000 naissances ; environ 250 000 personnes en sont atteintes dans le monde.1,2<\/sup><\/p>\n <\/div>\n<\/div>\n\n

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G\u00c9N\u00c9TIQUE\n<\/h3>\n

La plupart des enfants atteints d’achondroplasie (80 %) ont des parents de taille normale. Ces enfants sont porteurs d’un g\u00e8ne qui ne fonctionne pas correctement \u00e0 cause d’une mutation (changement al\u00e9atoire dans la structure d’un g\u00e8ne).3<\/sup><\/p>\n

R\u00e9f\u00e9rences<\/strong>: 1. Ireland PJ et al. Appl Clin Genet<\/em> 2014;7:17-
\n125.2. Wynn J et al. Am J Med Genet A<\/em>
\n2007;143A(21):2502-11. 3. Hecht JT, Bodensteiner JB, Butler
\n13. Handb Clin Neurol<\/em> 2014;119:551-63. <\/small><\/p>\n <\/div>\n<\/div>\n\n

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DIFF\u00c9RENTS DIAGNOSTICS EXISTENT\n<\/h3>\n

L’observation de certaines caract\u00e9ristiques physiques \u00e0 l’\u00e9chographie permet le plus souvent de d\u00e9tecter ou de diagnostiquer l’achondroplasie avant la naissance. Les signes \u00e9chographiques peuvent \u00eatre compl\u00e9t\u00e9s par un scanner osseux (apr\u00e8s 28-30 SA) et\/ou une \u00e9tude mol\u00e9culaire pr\u00e9natale, sur liquide amniotique ou ADN foetal pr\u00e9sent dans le sang maternel. Le diagnostic peut aussi \u00eatre port\u00e9 apr\u00e8s la naissance devant les \u00e9l\u00e9ments radio-cliniques et\/ou l\u2019\u00e9tude mol\u00e9culaire de FGFR3.<\/p>\n <\/div>\n<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n <\/div>\n <\/div>\n<\/div>\n\n

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Tout commence au niveau des os<\/h2>\n

Les os commencent leur croissance avant la naissance (in utero<\/em>) et continuent de cro\u00eetre jusqu’\u00e0 l’\u00e2ge adulte. Ce processus se produit au niveau des plaques de croissance, l\u00e0 o\u00f9 l’organisme fabrique du cartilage qui sera \u00e0 terme remplac\u00e9 par de l’os.<\/p>\n

Les chondrocytes (les cellules du cartilage) s’alignent pour former du nouveau tissu osseux. Ce processus, appel\u00e9 \u00ab ossification endochondrale \u00bb, concerne presque tous les os du corps. Il est contr\u00f4l\u00e9 par des r\u00e9cepteurs pr\u00e9sents au niveau des chondrocytes qui envoient et re\u00e7oivent des signaux.<\/p>\n <\/div>\n\n

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Certains signaux, tels que ceux envoy\u00e9s par les r\u00e9cepteurs du peptide natriur\u00e9tique de type B (NPRB), indiquent aux os qu’ils doivent cro\u00eetre. D’autres, comme ceux des r\u00e9cepteurs 3 du facteur de croissance des fibroblastes (FGFR3), leur donnent l’ordre de ralentir leur croissance.<\/p>\n

Habituellement, les r\u00e9cepteurs FGFR3 ne s’activent que lorsque l’organisme doit cesser de remplacer le cartilage par de l’os.<\/p>\n <\/div>\n\n

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Chez les personnes atteintes d’achondroplasie, une modification de la structure du g\u00e8ne FGFR3<\/em> conduit l’organisme \u00e0 envoyer continuellement des signaux qui ralentissent la croissance osseuse. Les r\u00e9cepteurs FGFR3 \u00e9tant activ\u00e9s en permanence, les signaux qui freinent la croissance osseuse sont plus forts que ceux qui la favorisent (signaux des r\u00e9cepteurs NPRB).<\/p>\n

Cela emp\u00eache les chondrocytes de s’aligner pour former du nouveau tissu osseux et perturbe le d\u00e9veloppement des os.<\/strong><\/p>\n <\/div>\n <\/div>\n <\/div>\n<\/div>\n\n

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En savoir plus sur les cons\u00e9quences de l’achondroplasie tout au long de la vie.\n<\/h2>\n\t\t\t\t\t\t \t\t\t\t\t\t \t\t\t\t\t <\/div>\n\t\t\t\t\t
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SAVOIR \u00c0 QUOI S’ATTENDRE<\/a><\/p>\n <\/div>\n\t\t\t\t\t <\/div>\n\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"author":3,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"class_list":["post-22","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"\nAchondroplasia, a Type Of Dwarfism | Causes & Facts<\/title>\n<meta name=\"description\" content=\"Find out about the genetic cause of this inherited condition and the impact of Achondroplasia, a type of short limbed dwarfism, on bone growth.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/achondroplasia.biomarin.com\/fr-fr\/what-is-achondroplasia\/\" \/>\n<meta property=\"og:locale\" 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