This website is intended for Healthcare Professionals practicing in the U.S.

Inhibited bone growth can lead to multisystemic complications. See how you can impact your patients’ care.1-3

Connect with a BioMarin representative

Learn about care and treatment for achondroplasia.4

Get connected

Bone growth is inhibited in achondroplasia1

Achondroplasia is a rare genetic condition in which endochondral bone growth, the process of replacing cartilage with bone, is inhibited at the growth plates.1,3,5,6

1 in 25,000 people are born with achondroplasia.5

Potential complications can impact quality of life and occur through adulthood2

Inhibited bone growth can lead to progressive, multisystemic complications that can impact daily functioning and quality of life. These need to be proactively monitored from birth and throughout adulthood.1-3,26,27

You play an important role in initiating multidisciplinary care.3,27

 

  • FORAMEN MAGNUM STENOSIS
    May be associated with compression of the lower brain stem and higher mortality28-30

  • OBSTRUCTIVE SLEEP APNEA
    Affects >50% of people with achondroplasia32

  • DENTAL ISSUES
    Including misaligned teeth, a narrow palate, open bite, or underbite31,34

  • PSYCHOSOCIAL IMPACT
    Negative self-perception can lead to poor self-esteem37

  • CHRONIC PAIN
    Especially back pain, which can result in reduced mobility34

  • RECURRENT OTITIS MEDIA
    Ear infections can affect up to 70% of people with achondroplasia, causing hearing issues or speech delays27,31

  • GENU VARUM (TIBIAL BOWING)
    Can affect walking and running33

  • FUNCTIONAL CHALLENGES
    Can affect mobility, independence, and daily activities35,36

  • SPINAL STENOSIS
    Can lead to leg weakness, incontinence, and chronic pain, especially in the back34,38

  • OBESITY
    Can lead to heart disease35,39

Your role in multidisciplinary care3,27

Proactive, early management is necessary for achondroplasia. Coordinated care is needed to provide optimal patient outcomes and to support their parents and caregivers.3,4,27,31,32,40

Find specialized care for your patients

Help caregivers find a specialist in their area with our Achondroplasia Doctor Finder.

Locate other healthcare providers who have experience caring for children with achondroplasia.

Search results are not comprehensive and do not reflect any endorsement or certifications from BioMarin.

This directory is available for any healthcare provider who chooses to be listed and may not reflect all healthcare professionals in your area.

Close terms

Terms & Conditions

By using this website, you agree that:

Request to speak with a BioMarin Representative

Take the next step and talk with a representative about care and treatment for your patients with achondroplasia.4

*Required fields

References:

  1. Horton WA, Hall JG, Hecht JT. Achondroplasia. Lancet. 2007;370(9582):162-172.
  2. Hoover-Fong J, Cheung MS, Fano V, et al. Lifetime impact of achondroplasia: current evidence and perspectives on the natural history. Bone. 2021;146:115872.
  3. 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. 2022;18(3):173-189.
  4. Savarirayan R, Hoover-Fong J, Ozono K, et al. International consensus guidelines on the implementation and monitoring of vosoritide therapy in individuals with achondroplasia. Nat Rev Endocrinol. 2025;21(5):314-324.
  5. Foreman PK, van Kessel F, van Hoorn R, et al. Birth prevalence of achondroplasia: a systematic literature review and meta-analysis. Am J Med Genet A. 2020;182(10):2297-2316.
  6. Mackie EJ, Tatarczuch L, Mirams M. The skeleton: a multi-functional complex organ: the growth plate chondrocyte and endochondral ossification. J Endocrinol. 2011;211(2):109-121.
  7. Clarke B. Normal bone anatomy and physiology. Clin J Am Soc Nephrol. 2008;3(suppl 3):S131-S139.
  8. Breeland G, Sinkler MA, Menezes RG. Embryology, bone ossification. In: StatPearls. StatPearls Publishing; 2023. Accessed April 23, 2025. https://www.ncbi.nlm.nih.gov/books/NBK539718/
  9. Berendsen AD, Olsen BR. Bone development. Bone. 2015;80:14-18.
  10.  Cowan PT, Launico MV, Kahai P. Anatomy, bones. In: StatPearls. StatPearls Publishing; 2024. Accessed April 23, 2025. https://www.ncbi.nlm.nih.gov/books/NBK537199/
  11.  Johns Hopkins Medicine. Anatomy of the bone. Accessed April 23, 2025. https://www.hopkinsmedicine.org/health/wellness-and-prevention/anatomy-of-the-bone
  12. Jin SW, Sim KB, Kim SD. Development and growth of the normal cranial vault: an embryologic review. J Korean Neurosurg Soc. 2016;59(3):192-196.
  13. Anderson BW, Kortz MW, Black AC, et al. Anatomy, head and neck, skull. In: StatPearls. StatPearls Publishing; 2023. Accessed April 23, 2025. https://www.ncbi.nlm.nih.gov/books/NBK499834/
  14. Encyclopaedia Britannica. Science & Tech. Skull. Accessed April 23, 2025. https://www.britannica.com/science/skull
  15. Hall R, Beals K, Neumann H, et al. Introduction to Human Osteology. Grand Valley State University; 2008.
  16. Encyclopaedia Britannica. Science & Tech. Clavicle. Accessed April 23, 2025. https://www.britannica.com/science/clavicle
  17. Baron J, Sävendahl L, De Luca F, et al. Short and tall stature: a new paradigm emerges. Nat Rev Endocrinol. 2015;11(12):735-746.
  18. Shahzad F. Pediatric mandible reconstruction: controversies and considerations. Plast Reconstr Surg Glob Open. 2020;8(12):e3285.
  19. Bartleby. Henry Gray (1825-1861). Anatomy of the Human Body. 1918. Fig. 237. Accessed May 7, 2025. https://www.bartleby.com/lit-hub/anatomy-of-the-human-body/fig-237/
  20. Encyclopaedia Britannica. Science & Tech. Pelvis. Accessed May 7, 2025. https://www.britannica.com/science/pelvis
  21. Mayo Clinic. Growth plate fracture. Accessed May 7, 2025. https://www.mayoclinic.org/diseases-conditions/growth-plate-fractures/multimedia/growth-plate-fracture/img-20005879
  22. International Center for Limb Lengthening. Growth arrest. Accessed June 10, 2025. https://www.limblength.org/conditions/growth-arrest/
  23. Hsieh YL, Wei X, Wang Y, et al. Chondrocyte Tsc1 controls cranial base bone development by restraining the premature differentiation of synchondroses. Bone. 2021;153:116142.
  24. Musculoskeletal Key. Cranial and pelvic “vertebrae” are they real vertebrae? Accessed June 10, 2025. https://musculoskeletalkey.com/cranial-and-pelvic-vertebrae-are-they-real-vertebrae/
  25. Young M, Selleri L, Capellini TD. Genetics of scapula and pelvis development: An evolutionary perspective. Curr Top Dev Biol. 2019;132:311-349.
  26. Constantinides C, Landis SH, Jarrett J, et al. Quality of life, physical functioning, and psychosocial function among patients with achondroplasia: a targeted literature review. Disabil Rehabil. 2022;44(21):6166-6178.
  27. Hoover-Fong J, Scott CI, Jones MC; AAP Committee on Genetics. Health supervision for people with achondroplasia. Pediatrics. 2020;145(6):e20201010.
  28. Hecht JT, Francomano CA, Horton WA, et al. Mortality in achondroplasia. Am J Hum Genet. 1987;41(3):454-464.
  29. Hecht JT, Horton WA, Reid CS, et al. Growth of the foramen magnum in achondroplasia. Am J Med Genet. 1989;32(4):528-535.
  30. Hecht JT, Bodensteiner JB, Butler IJ. Neurologic manifestations of achondroplasia. Handb Clin Neurol. 2014;119:551-563.
  31. Pauli RM. Achondroplasia: a comprehensive clinical review. Orphanet J Rare Dis. 2019;14(1):1.
  32. Unger S, Bonafé L, Gouze E. Current care and investigational therapies in achondroplasia. Curr Osteoporos Rep. 2017;15(2):53-60.
  33. Shirley ED, Ain MC. Achondroplasia: manifestations and treatment. J Am Acad Orthop Surg. 2009;17(4):231-241.
  34. Hunter AG, Bankier A, Rogers JG, et al. Medical complications of achondroplasia: a multicentre patient review. J Med Genet. 1998;35(9):705-712.
  35. Fredwall SO, Maanum G, Johansen H, et al. Current knowledge of medical complications in adults with achondroplasia: A scoping review. Clin Genet. 2020;97(1):179-197.
  36. Alade Y, Tunkel D, Schulze K, et al. Cross-sectional assessment of pain and physical function in skeletal dysplasia patients. Clin Genet. 2013;84(3):237-243.
  37. Nishimura N, Hanaki K. Psychosocial profiles of children with achondroplasia in terms of their short stature-related stress: a nationwide survey in Japan. J Clin Nurs. 2014;23(21-22):3045-3056.
  38. Ain MC, Abdullah MA, Ting BL, et al. Progression of low back and lower extremity pain in a cohort of patients with achondroplasia. J Neurosurg Spine. 2010;13(3):335-340.
  39. Hecht JT, Hood OJ, Schwartz RJ, et al. Obesity in achondroplasia. Am J Med Genet. 1988;31(3):597-602.
  40. Wright MJ, Irving MD. Clinical management of achondroplasia. Arch Dis Child. 2012;97(2):129-134.