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International Consensus Statement Tool

A tool to help you filter the first-of-its-kind publication on achondroplasia management

The International Consensus Statement on the Diagnosis, Multidisciplinary Management and Lifelong Care of Individuals with Achondroplasia was developed with the primary purpose of facilitating the improvement and standardisation of care for children and adults with achondroplasia worldwide, in order to optimise their clinical outcomes and quality of life. The interactive tool below contains the content from the publication and has been designed to help you filter the information that may be most relevant to your needs and interests.

Savarirayan, R. et al. International Consensus Statement on the Diagnosis, Multidisciplinary Management and Lifelong Care of Individuals with Achondroplasia. Savarirayan, R, et al. Nat Rev Endocrinol. 2022;18:173–189.
https://doi.org/10.1038/s41574-021-00595-x. This interactive tool of the International Consensus Statement is provided to you under the Creative Commons license.

The initial meeting of experts was sponsored by BioMarin Pharmaceutical Inc., who also provided logistic assistance. The International Consensus Statement publication was funded by BioMarin, but developed independently. The publication should be read in its entirety. This website does not provide medical advice and does not replace the need for independent research, medical judgment, or review and analysis of additional resources.

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RESOURCES FOR YOU AND YOUR CARE TEAM

Learn more about patient management and the importance of monitoring growth and development in achondroplasia.

Achondroplasia Expert Video

Hear the experts discuss key topics from the International Consensus Statement

GROWTH AND DEVELOPMENT PUBLICATIONS

It’s important to use achondroplasia-specific growth charts and developmental milestones to ensure that you are appropriately assessing and monitoring your patients’ growth and development. For your convenience, we've included information on publications that you can use to learn more about growth and development monitoring.

2007

Weight for age charts for children with achondroplasia.

Hoover‐Fong, J. et al. Am. J. Med. Genet. A 143, 2227–35 (2007).

2017

A height‐for‐age growth reference for children with achondroplasia: Expanded applications and comparison with original reference data.

Hoover-Fong, J. et al. Am. J. Med. Genet. A 173, 1226–30 (2017).

2011

Growth references for height, weight, and head circumference for Argentine children with achondroplasia.

Del Pino, M., Fano, V. & Lejarraga, H. Eur. J. Pediatr. 170, 453–459 (2011).

2017

Growth charts for Australian children with achondroplasia.

Tofts L, Das S, Collins F, Burton KLO. Am. J. Med. Genet. A. 173(8):2189-2200 (2017).

2018

Growth in achondroplasia: Development of height, weight, head circumference, and body mass index in a European cohort.

Merker A, Neumeyer L, Herte, NT, Grigelioniene G, Mäkitie O, Mohnike K, Hagenäs L. Am. J. of Med. Genet. A 176, 1723-34 (2018).

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References: 1. Foreman P K, et al. Am. J. Med. Genet. A. 2020:182;2297–2316. 2. Horton W A, et al. Lancet. 2007:370;162–172. 3. Pauli R M, Orphanet J. Rare Dis. 2019:14, 1. 4. Savarirayan R, et al. Adv. Pediatr. 2004:51;209–229. 5. Legeai-Mallet L, et al. Bone. 2020:141;115579. 6. Savarirayan R, et al. Am. J. Obstet. Gynecol. 2018:219;545–562. 7. Giles C, BMJ. 2015:351;0008. 8. Wright M. J., et al. Arch. Dis. Child. 2012:97;129–134. 9. Dwek J R, Pediatr. Radiol. 2019:49;1576–1586. 10. Offiah A C, et al. Pediatr. Radiol. 2020:50;1650–1657 . 11. Watson S, et al. Pediatr. Radiol. 2015:45;1733–1737. 12. White K K, et al. Am. J. Med. Genet. A. 2017:173;2584–2595. 13. Ireland P J, et al. Dev. Med. Child Neurol. 2012:54;532–537. 14. Trotter T L, et al. Pediatrics. 2005:116;771–783. 15. Ireland P J, et al. Appl. Clin. Genet. 2014:7;117–125. 16. Cheung M S, et al. Arch. Dis. Child. 2021:106;180–184. 17. Nadel J L, et al. Anal. J. Neurosurg. Pediatr. 2019:23;374–380. 18. Tunkel D E, et al. Arch. Otolaryngol. Head Neck Surg. 2011:137;1236–1239. 19. Alade Y, et al. Clin. Genet. 2013:84;237–243. 20. Fredwall S O, et al. Orphanet J. Rare Dis. 2020:15;123. 21. Lee S. T, et al. J. Bone Joint Surg. Br. 2007:89(B);57–61. 22. Dhiman N, et al. Qual. Life Res. 2017:26;1337–1348. 23. Jennings S, et al. Qual. Life Res. 2019:28;1457–1464. 24. Wynn J, et al. Am. J. Med. Genet. A. 2007:143(A);2502–2511. 25. Yonko E A, et al. Am. J. Med. Genet. A. 2021:185;695–701. 26. Shakespeare T, et al. Scand. J. Disabil. Res. 2010:12;19–31. 27. Hoover-Fong J, et al. Pediatrics. 2020:145;e20201010. 28. Del Pino M, et al. Eur. J. Pediatr. 2011:170;453–459. 29. Hoover-Fong J, et al. Am. J. Med. Genet. A. 2017:173;1226–1230. 30. Merker A, et al. Am. J. Med. Genet. A. 2018:176;1819–1829. 31. Neumeyer L, et al. Am. J. Med. Genet. A. 2021:185;401–412. 32. Tofts L, et al. Am. J. Med. Genet. A. 2017:173;2189–2200. 33. Ireland P J, et al. Dev. Med. Child Neurol. 2011:53;944–950. 34. Pauli R, et al. J. Pediatr. Orthop. 1997:17;726–733. 35. Sanders V R, et al. Genet. Med. 2019:21;459–463. 36. Savarirayan R, et al. Orphanet J. Rare Dis. 2021:16;31. 37. Esposito S, et al. Clin. Microbiol. Infect. 2016:22;S89–S95. 38. Hashmi S S, et al. Am. J. Med. Genet. A. 2018:176;2359–2364. 39. Simmons K, et al. Birth Defects Res. A Clin. Mol. Teratol. 2014:4;247–249. 40. Bosemani T, et al. Childs Nerv. Syst. 2015:31;129–133. 41. Moritani T, et al. Clin. Imaging. 2006:30;195–200. 42. White K K, et al. Am. J. Med. Genet. A 2016: 170, 42–51 (2016). 43. Cheung M S, et al. Bone. 2019:127;499–502. 44. Hoover-Fong J, et al. Genet. Med. 2021:23;1498–1505. 45. King J A J, et al. J. Neurosurg. Pediatr. 2009:4;297–306. 46. Calandrelli R, et al. Neuroradiology. 2017:59;1031–1041. 47. Rekate H L, Fluids Barriers CNS. 2019:16; O67. 48. Mackenzie W G, et al. J. Pediatr. Orthop. 2012:33;91–98. 49. Brouwer P, et al. Eur. Radiol. 2012:22;2264–2272. 50. Davies J M, et al. Neurosurg. Clin. N. Am. 2015:26;207–218. 51. Fornarino S, et al. Dev. Med. Child Neurol. 2017:59;192–198. 52. Van Dijk J M C, et al. J. Neurosurg. Spine.2007: 6;304–308. 53. Del Pino M, et al. Am. J. Med. Genet. A. 2018:176;896–906. 54. Miccoli M, et al. Horm. Res. Paediatr. 2016:86;27–34. 55. Hertel N T, et al. Acta Paediatr. 2005:94;1402–1410. 56. Ireland P J, et al. J. Paediatr. Child Health. 2012:48;443–449. 57. Misra S N, et al. Neurosurg. Focus. 2003:14;e4. 58. Hoover-Fong, J E, et al. Am. J. Med. Genet. A. 2007:143(A);2227–2235. 59. Hoover-Fong, J E, et al. Am. J. Clin. Nutr. 2008:88;364–371. 60. Saint-Laurent C, et al. Orphanet J. Rare Dis. 2019:14;253. 61. Sims D, et al. PLoS One. 2019:14;e0213806. 62. De Vries O M, et al. Am. J. Med. Genet. A. 2021:185;1023–1032. 63. Ain M C, et al. Spine. 2006:31;197–201. 64. Borkhuu B, et al. Spine. 2009:34;1699–1705. 65. Kopits S E, Basic Life Sci. 1988:48;241–255. 66. Margalit A, et al. J. Pediatr. Orthop. 2018:38;491–497. 67. Rosenfeld R M, et al. Otolaryngol. Head Neck Surg. 2016:154;201–214. 68. Afsharpaiman S, et al. Sleep Breath. 2011:15;755–761. 69. Julliand S, et al. Am. J. Med. Genet. A. 2012:158A;1987–1993. 70. Tenconi R, et al. Am. J. Med. Genet. A. 2017:173;868–878. 71. Inan M, et al. J. Pediatr. Orthop. 2006:26;75–78. 72. Vaidya S V, et al. J. Pediatr. Orthop. 2006:26;788–793. 73. Al-Saleem, A, et al. Saudi Dent. J. 2010:22;195–199. 74. Hecht, J T, et al. Am. J. Med. Genet. 1988:31;597–602. 75. White, K K, et al. Orphanet J. Rare Dis. 2020:15;161. 76. Takken T, et al. J. Pediatr. 2007:150;26–30. 77. Van Brussel M, et al. Pediatr. Phys. Ther. 2011:23;2–14. 78. Okenfuss E, et al. Am. J. Med. Genet. A. 2020:182;2540–2551. 79. Bodensteiner J B, Curr. Neurol. Neurosci. Rep. 2019:19;105. 80. Carlisle E S, et al. Spine. 2011:36;886–892. 81. Fredwall S O, et al. Orphanet J. Rare Dis. 2021:16;156. 82. Glass L, et al. Int. J. Pediatr. Otorhinolaryngol. 1981:3;129–135. 83. Tunkel D, et al. Am. J. Med. Genet. A. 2012:158(A);1551–1555. 84. Hoover-Fong J, et al. Am. J. Med. Genet. A. 2020:182;150–161. 85. Madsen A, et al. Am. J. Med. Genet. A. 2019:179;1745–1755. 86. Sciubba D M, et al. J. Neurosurg. 2007:106;372–378. 87. Fredwall S O, et al. Genet. Med. 2021:23;732–739. 88. Hunter A G, et al. J. Med. Genet. 1998:35;705–712. 89. Hall J G, J. Pediatr. 1988:112;166–167. 90. Siebens A A, et al. Arch. Phys. Med. Rehabil. 1987:68;384–388. 91. Pyeritz R E, et al. Am. J. Med. Genet. 1987:28;433–444. 92. Jeong S -T, et al. J. Bone Joint Surg. Br. 2006:88;1192–1196. 93. Brooks J T, et al. J. Pediatr. Orthop. 2016:36;349–354. 94. Kopits S E, Basic Life Sci. 1988:48;189–197. 95. Bailey J A, J. Bone Joint Surg. Am. 1970:52;1285–1301. 96. Okura T, et al. J. Orthop. Res. 2018:36;300–308. 97. Sabharwal S, et al. J. Bone Joint Surg. Am. 2008:90;43–51. 98. Sabharwal S, et al. J. Pediatr. Orthop. 2007:27;46–50. 99. Whitaker A, et al. Curr. Rev. Musculoskelet. Med. 2016:9;454–461. 100. Mcclure P K, et al. J. Pediatr. Orthop. 2017:37;384–387. 101. Akyol Y, et al. Pediatr. Radiol. 2015:45;888–895. 102. Atanda A, et al. J. Pediatr. Orthop. 2016:36;55–58. 103. Hoernschemeyer D G, et al. Orthopedics. 2016:39;498–503. 104. Leiva-Gea A, et al. Arch. Orthop. Trauma Surg. 2020:40;1665–1676. 105. Launay F, et al. Surg. Res. 2013:99;72–79. 106. Matsushita M, et al. Calcif. Tissue Int. 2019:104;364–372. 107. Balci H I, et al. Bone Joint J. 2015:97(B);1577–1581. 108. Ginebreda I, et al. Musculoskelet. Surg. 2019:103;257–262. 109. Shadi M, et al. Int. Orthop. 2018:42;419–426. 110. Bloemeke J, et al. Qual. Life Res. 2019:28;2553–2563. 111. Collins W O, et al. Arch. Otolaryngol. Head Neck Surg. 2007:133;237–244. 112. Lyford-Pike S, et al. Otolaryngol. Clin. North Am. 2012:45;579–598. 113. Sisk E A, et al. Otolaryngol. Head Neck Surg. 1999:120;248–254. 114. Afsharpaiman S, et al. Paediatr. Respir. Rev. 2013:14;250–255. 115. Zaffanello M, et al. World J. Pediatr. 2017:13;8–14. 116. Ednick M, et al. J. Pediatr. 2009:155;510–515. 117. Dessoffy K E, et al. Am. J. Med. Genet. A 2014:164A;407–414. 118. Susarla S M, et al. J. Craniomaxillofac. Surg. 2017:45;2028–2034. 119. Rosenfeld R M, et al. Otolaryngol. Head Neck Surg. 2013:149;8–16. 120. Pauli R M, et al. Int. J. Pediatr. Otorhinolaryngol. 199:48;169–174. 121. Stephen L, et al. S. Afr. Med. J. 2005:95;588–589. 122. Machado-Júnior A, et al. Med. Oral. Patol. Oral. Cir. Bucal. 2016:21;465–469. 123. Mayhew J F, et al. Can. Anaesth. Soc. J. 1986:33;216–221. 124. Zucconi M, et al. J. Pediatr. 1996:129;743–749. 125. Merker A, et al. Am. J. Med. Genet. A. 2018:176;1723–1734. 126. Schulze K J, et al. Am. J. Med. Genet. A. 2013:161;2110–2112. 127. Rohenkohl A C, et al. Orthopade. 2015:44;212–218. 128. Sommer R, et al. Disabil. Rehabil. 2017:39;2499–2503. 129. Cortinovis I, et al. Appl. Psychol. Health Well-Being.2011:3;207–227. 130. Witt S, et al. Orphanet J. Rare Dis. 2019:14;194. 131. Thompson S, et al. Disabil. Rehabil. 2008:30;1–12. 132. Gómez-Zúñiga B, et al. Orphanet J. Rare Dis. 2019:14;159. 133. Witt S, et al. Pediatr. Endocrinol. Rev. 2017:15;109–118. 134. Savarirayan R, et al. N. Engl. J. Med. 2019:381;25–35. 135. Savarirayan R, et al. Lancet. 2020:396;684–692.