{"id":4391,"date":"2025-09-24T16:01:48","date_gmt":"2025-09-24T16:01:48","guid":{"rendered":"https:\/\/hcp.biomarin.com\/en-us\/voxzogo\/?page_id=4391"},"modified":"2026-06-02T21:27:52","modified_gmt":"2026-06-02T21:27:52","slug":"understanding-ach","status":"publish","type":"page","link":"https:\/\/hcp.biomarin.com\/en-us\/voxzogo\/understanding-ach\/","title":{"rendered":"Understanding ACH"},"content":{"rendered":"
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In achondroplasia, endochondral bone growth is inhibited throughout the body1-4<\/sup><\/h1>\n <\/div>\n <\/div>\n <\/div>\n<\/div>\n\n
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Endochondral bone growth, in which cartilage is replaced by bone at open growth plates, requires a balance of cell signals\u2014CNP (which promotes bone growth) and FGFR3 (which slows bone growth).1,3<\/sup><\/p>\n

Endochondral bones make up >90% of the bones in the body4-13<\/sup><\/h2>\n

Overactive FGFR3 signaling<\/strong> relative to CNP signaling<\/strong> in growth plate cells is the underlying cause of inhibited bone growth in achondroplasia. Endogenous CNP levels cannot adequately regulate overactive FGFR3 signals.1<\/sup><\/p>\n <\/div>\n \n

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CNP,<\/strong> C-type natriuretic peptide; FGFR3,<\/strong> fibroblast growth factor receptor 3.<\/p>\n <\/div>\n <\/div>\n <\/div>\n<\/div>\n\n

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Achondroplasia is associated with potential multisystemic skeletal complications2,26-28<\/sup><\/span><\/h2>\n <\/div>\n\n
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VOXZOGO has been approved to increase linear growth in children with achondroplasia.29<\/sup> Proactive and multidisciplinary care can help inform management and treatment approaches, which are important for multisystemic complications.2,30<\/sup><\/p>\n<\/figcaption>\n <\/figure>\n <\/div>\n <\/div>\n<\/div>\n\n

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Inhibited bone growth throughout the body can affect different aspects of development1-4,26,27<\/sup><\/h2>\n

Inhibited endochondral bone growth leads to distinct characteristic features such as reduced and disproportionate growth<\/strong>.1,2,26<\/sup><\/p>\n

Upper-to-lower body segment ratio<\/strong> is a common measure of body proportionality and is calculated by the length of the upper body divided by the length of the lower body.31-33<\/sup><\/p>\n <\/div>\n\n

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 <\/p>\n

*Ratios represent the 50th percentile of children with achondroplasia.31,32<\/sup><\/span><\/p>\n<\/figcaption>\n <\/figure>\n <\/div>\n <\/div>\n<\/div>\n\n

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Care from birth is important for infants and children with achondroplasia2<\/sup>\n<\/h2>\n\t\t\t\t\t\t \t\t\t\t\t\t \t\t\t\t\t\t

Initiate a care path for your patients following diagnosis.2<\/sup><\/p>\n\t\t\t\t\t\t \t\t\t\t\t <\/div>\n\t\t\t\t\t

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See How<\/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>\n\n

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References:\n<\/h4>\n\t\t\t\t\t\t
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  1. Horton WA, Hall JG, Hecht JT. Achondroplasia. Lancet.<\/em> 2007;370(9582):162-172.\n<\/span><\/li>\n
  2. Savarirayan R, Ireland P, Irving M, et al. International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia. Nat Rev Endocrinol.<\/em> 2022;18(3):173-189.\n<\/span><\/li>\n
  3. Mackie EJ, Tatarczuch L, Mirams M. The skeleton: a multi-functional complex organ: the growth plate chondrocyte and endochondral ossification. J Endocrinol.<\/em> 2011;211(2):109-121.\n<\/span><\/li>\n
  4. Clarke B. Normal bone anatomy and physiology. Clin J Am Soc Nephrol.<\/em> 2008;3(suppl 3):S131-S139.\n<\/span><\/li>\n
  5. Breeland G, Sinkler MA, Menezes RG. Embryology, bone ossification. In: StatPearls.<\/em> StatPearls Publishing; 2023. Accessed March 17, 2026. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK539718\/\n<\/span><\/li>\n
  6. Berendsen AD, Olsen BR. Bone development. Bone.<\/em> 2015;80:14-18.\n<\/span><\/li>\n
  7. Cowan PT, Launico MV, Kahai P. Anatomy, bones. In: StatPearls.<\/em> StatPearls Publishing; 2024. Accessed March 17, 2026. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK537199\/\n<\/span><\/li>\n
  8. Johns Hopkins Medicine. Anatomy of the bone. Accessed March 17, 2026. https:\/\/www.hopkinsmedicine.org\/health\/wellness-and-prevention\/anatomy-of-the-bone\n<\/span><\/li>\n
  9. Jin SW, Sim KB, Kim SD. Development and growth of the normal cranial vault: an embryologic review. J Korean Neurosurg Soc.<\/em> 2016;59(3):192-196.\n<\/span><\/li>\n
  10. Anderson BW, Kortz MW, Black AC, et al. Anatomy, head and neck, skull. In: StatPearls.<\/em> StatPearls Publishing; 2023. Accessed March 17, 2026. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK499834\/\n<\/span><\/li>\n
  11. Encyclopaedia Britannica. Science & Tech. Skull. Accessed March 17, 2026. https:\/\/www.britannica.com\/science\/skull\n<\/span><\/li>\n
  12. Hall R, Beals K, Neumann H, et al. Introduction to Human Osteology.<\/em> Grand Valley State University; 2008.\n<\/span><\/li>\n
  13. Encyclopaedia Britannica. Science & Tech. Clavicle. Accessed March 17, 2026. https:\/\/www.britannica.com\/science\/clavicle\n<\/span><\/li>\n
  14. Baron J, S\u00e4vendahl L, De Luca F, et al. Short and tall stature: a new paradigm emerges. Nat Rev Endocrinol.<\/em> 2015;11(12):735-746.\n<\/span><\/li>\n
  15. Shahzad F. Pediatric mandible reconstruction: controversies and considerations. Plast Reconstr Surg Glob Open.<\/em> 2020;8(12):e3285.\n<\/span><\/li>\n
  16. Bartleby. Henry Gray (1825-1861). Anatomy of the Human Body.<\/em> 1918. Fig. 237. Accessed March 17, 2026. https:\/\/www.bartleby.com\/lit-hub\/anatomy-of-the-human-body\/fig-237\/\n<\/span><\/li>\n
  17. Encyclopaedia Britannica. Science & Tech. Pelvis. Accessed March 17, 2026. https:\/\/www.britannica.com\/science\/pelvis\n<\/span><\/li>\n
  18. Mayo Clinic. Growth plate fracture. Accessed March 17, 2026. https:\/\/www.mayoclinic.org\/diseases-conditions\/growth-plate-fractures\/multimedia\/growth-plate-fracture\/img-20005879\n<\/span><\/li>\n
  19. International Center for Limb Lengthening. Growth arrest. Accessed March 17, 2026. https:\/\/www.limblength.org\/conditions\/growth-arrest\/\n<\/span><\/li>\n
  20. Hsieh YL, Wei X, Wang Y, et al. Chondrocyte Tsc1 controls cranial base bone development by restraining the premature differentiation of synchondroses. Bone.<\/em> 2021;153:116142.\n<\/span><\/li>\n
  21. Musculoskeletal Key. Cranial and pelvic “vertebrae” are they real vertebrae? Accessed March 17, 2026. https:\/\/musculoskeletalkey.com\/cranial-and-pelvic-vertebrae-are-they-real-vertebrae\/\n<\/span><\/li>\n
  22. Young M, Selleri L, Capellini TD. Genetics of scapula and pelvis development: an evolutionary perspective. Curr Top Dev Biol.<\/em> 2019;132:311-349.\n<\/span><\/li>\n
  23. Yu M, Wang SM. Anatomy, head and neck, ethmoid bone. In: StatPearls.<\/em> StatPearls Publishing; 2025. Accessed March 17, 2026. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK544328\/\n<\/span><\/li>\n
  24. \u00c7ankaya H, Egeli E, Kutluhan A, Kiri\u015f M. Pneumatization of the concha inferior as a cause of nasal obstruction. Rhinology.<\/em> 2001;39(2):109-111.\n<\/span><\/li>\n
  25. Mitomo K, Matsunaga S, Kitamura K, et al. Sphenoid bone hypoplasia is a skeletal phenotype of cleidocranial dysplasia in a mouse model and patients. Bone.<\/em> 2019;120:176-186.\n<\/span><\/li>\n
  26. Witt S, Rohenkohl A, Bullinger M, et al. Understanding, assessing and improving health-related quality of life of young people with achondroplasia \u2013 a collaboration between a patient organization and academic medicine. Pediatr Endocrinol Rev.<\/em> 2017;15(suppl 1):109-118.\n<\/span><\/li>\n
  27. Hoover-Fong J, Cheung MS, Fano V, et al. Lifetime impact of achondroplasia: current evidence and perspectives on the natural history. Bone.<\/em> 2021;146:115872.\n<\/span><\/li>\n
  28. Brinkmann G, Schlitt H, Zorowka P, Spranger J. Cognitive skills in achondroplasia. Am J Med Genet.<\/em> 1993;47(5):800-804.\n<\/span><\/li>\n
  29. VOXZOGO [package insert]. Novato, CA: BioMarin Pharmaceutical Inc; 2024.\n<\/span><\/li>\n
  30. Hoover-Fong J, Scott CI, Jones MC; Committee on Genetics. Health supervision for people with achondroplasia. Pediatrics.<\/em> 2020;145(6):e20201010.\n<\/span><\/li>\n
  31. Hoover-Fong JE, Schulze KJ, McGready J, et al. Age-appropriate body mass index in children with achondroplasia: interpretation in relation to indexes of height. Am J Clin Nutr.<\/em> 2008;88(2):364-371.\n<\/span><\/li>\n
  32. Chilbule SK, Dutt V, Madhuri V. Limb lengthening in achondroplasia. Indian J Orthop.<\/em> 2016;50(4):397-405.\n<\/span><\/li>\n
  33. Nwosu BU, Lee MM. Evaluation of short and tall stature in children. Am Fam Physician.<\/em> 2008;78(5):597-604.\n<\/span><\/li>\n <\/ol>\n\t\t\t\t\t<\/div>\n\t<\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"author":10,"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-4391","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"\nUnderstanding Achondroplasia | VOXZOGO\u00ae (vosoritide) HCP<\/title>\n<meta name=\"description\" content=\"Explore how achondroplasia affects infants and children and different aspects of development.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/hcp.biomarin.com\/en-us\/voxzogo\/understanding-ach\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" 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