World Journal of Pediatrics

, Volume 13, Issue 1, pp 8–14 | Cite as

Sleep disordered breathing in children with achondroplasia

  • Marco ZaffanelloEmail author
  • Gaetano Cantalupo
  • Giorgio Piacentini
  • Emma Gasperi
  • Luana Nosetti
  • Paolo Cavarzere
  • Diego Alberto Ramaroli
  • Aliza Mittal
  • Franco Antoniazzi
Review article



Children with achondroplasia often have breathing problems, especially during sleep. The most important treatments are adenotonsillectomy (for treating upper obstruction) and/or neurosurgery (for resolving cervicomedullar junction stenosis).

Data sources

We reviewed the scientific literature on polysomnographic investigations which assessed the severity of respiratory disorders during sleep.


Recent findings have highlighted the importance of clinical investigations in patients with achondroplasia, differentiating between those that look for neurological patterns and those that look for respiratory problems during sleep. In particular, magnetic resonance imaging (MRI) and somatosensory evoked potentials are the main tools to evaluate necessary neurosurgery and over myelopathy, respectively.


The use of polysomnography enables clinicians to identify children with upper airway obstruction and to quantify disease severity; it is not suitable for MRI and/or neurosurgery considerations.

Key words

achondroplasia children polysomnography sleep disordered breathing upper respiratory tract obstruction 


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Supplementary material

12519_2016_51_MOESM1_ESM.pdf (120 kb)
Sleep disordered breathing in achondroplasia


  1. 1.
    Waller DK, Correa A, Vo TM, Wang Y, Hobbs C, Langlois PH, et al. The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US. Am J Med Genet A 2008;146A:2385-2389.CrossRefPubMedPubMedCentralGoogle Scholar
  2. 2.
    Aviezer D, Golembo M, Yayon A. Fibroblast growth factor receptor-3 as a therapeutic target for Achondroplasia—genetic short limbed dwarfism. Curr Drug Targets 2003;4:353–365.CrossRefPubMedGoogle Scholar
  3. 3.
    Francomano CA. The genetic basis of dwarfism. N Engl J Med 1995;332:58–59.CrossRefPubMedGoogle Scholar
  4. 4.
    Horton WA, Hall JG, Hecht JT. Achondroplasia. Lancet 2007;370:162–172.CrossRefPubMedGoogle Scholar
  5. 5.
    Stokes DC, Phillips JA, Leonard CO, Dorst JP, Kopits SE, Trojak JE, et al. Respiratory complications of achondroplasia. J Pediatr 1983;102:534–541.CrossRefPubMedGoogle Scholar
  6. 6.
    Julliand S, Boulé M, Baujat G, Ramirez A, Couloigner V, Beydon N, et al. Lung function, diagnosis, and treatment of sleep-disordered breathing in children with achondroplasia. Am J Med Genet A 2012;158A:1987-1993.CrossRefPubMedGoogle Scholar
  7. 7.
    Afsharpaiman S, Saburi A, Waters KA. Respiratory difficulties and breathing disorders in achondroplasia. Paediatr Respir Rev 2013;14:250–255.PubMedGoogle Scholar
  8. 8.
    Mogayzel PJ, Carroll JL, Loughlin GM, Hurko O, Francomano CA, Marcus CL. Sleep-disordered breathing in children with achondroplasia. J Pediatr 1998;132:667–671.CrossRefPubMedGoogle Scholar
  9. 9.
    Ednick M, Tinkle BT, Phromchairak J, Egelhoff J, Amin R, Simakajornboon N. Sleep-related respiratory abnormalities and arousal pattern in achondroplasia during early infancy. J Pediatr 2009;155:510–515.CrossRefPubMedGoogle Scholar
  10. 10.
    Onodera K, Sakata H, Niikuni N, Nonaka T, Kobayashi K, Nakajima I, et al. Survey of the present status of sleep-disordered breathing in children with achondroplasia Part I. A questionnaire survey. Int J Pediatr Otorhinolaryngol 2005;69:457–461.CrossRefPubMedGoogle Scholar
  11. 11.
    Pauli RM, Scott CI, Wassman ER, Gilbert EF, Leavitt LA, Ver Hoeve J, et al. Apnea and sudden unexpected death in infants with achondroplasia. J Pediatr 1984;104:342–348.CrossRefPubMedGoogle Scholar
  12. 12.
    Hecht JT, Thompson NM, Weir T, Patchell L, Horton WA. Cognitive and motor skills in achondroplastic infants: neurologic and respiratory correlates. Am J Med Genet 1991;41:208–211.CrossRefPubMedGoogle Scholar
  13. 13.
    Colamaria V, Mazza C, Beltramello A, Polo A, Boner A, Antoniazzi F, et al. Irreversible respiratory failure in an achondroplastic child: the importance of an early cervicomedullary decompression, and a review of the literature. Brain Dev 1991;13:270–279.CrossRefPubMedGoogle Scholar
  14. 14.
    Waters KA, Everett F, Sillence DO, Fagan ER, Sullivan CE. Treatment of obstructive sleep apnea in achondroplasia: evaluation of sleep, breathing, and somatosensory-evoked potentials. Am J Med Genet 1995;59:460–466.CrossRefPubMedGoogle Scholar
  15. 15.
    Health supervision for children with achondroplasia. American Academy of Pediatrics Committee on Genetics. Pediatrics 1995;95:443–451.Google Scholar
  16. 16.
    Tasker RC, Dundas I, Laverty A, Fletcher M, Lane R, Stocks J. Distinct patterns of respiratory difficulty in young children with achondroplasia: a clinical, sleep, and lung function study. Arch Dis Child 1998;79:99–108.CrossRefPubMedPubMedCentralGoogle Scholar
  17. 17.
    Afsharpaiman S, Sillence DO, Sheikhvatan M, Ault JE, Waters K. Respiratory events and obstructive sleep apnea in children with achondroplasia: investigation and treatment outcomes. Sleep Breath 2011;15:755–761.CrossRefPubMedGoogle Scholar
  18. 18.
    Fremion AS, Garg BP, Kalsbeck J. Apnea as the sole manifestation of cord compression in achondroplasia. J Pediatr 1984;104:398–401.CrossRefPubMedGoogle Scholar
  19. 19.
    Mador MJ, Tobin MJ. Apneustic breathing. A characteristic feature of brainstem compression in achondroplasia? Chest 1990;97:877–883.CrossRefPubMedGoogle Scholar
  20. 20.
    Onodera K, Niikuni N, Chigono T, Nakajima I, Sakata H, Motizuki H. Sleep disordered breathing in children with achondroplasia. Part 2. Relationship with craniofacial and airway morphology. Int J Pediatr Otorhinolaryngol 2006;70:453–461.PubMedGoogle Scholar
  21. 21.
    Collins WO, Choi SS. Otolaryngologic manifestations of achondroplasia. Arch Otolaryngol Head Neck Surg 2007;133:237–244.CrossRefPubMedGoogle Scholar
  22. 22.
    Dessoffy KE, Modaff P, Pauli RM. Airway malacia in children with achondroplasia. Am J Med Genet A 2014;164A:407-414.CrossRefPubMedGoogle Scholar
  23. 23.
    Hecht JT, Francomano CA, Horton WA, Annegers JF. Mortality in achondroplasia. Am J Hum Genet 1987;41:454–464.PubMedPubMedCentralGoogle Scholar
  24. 24.
    Wang H, Rosenbaum AE, Reid CS, Zinreich SJ, Pyeritz RE. Pediatric patients with achondroplasia: CT evaluation of the craniocervical junction. Radiology 1987;164:515–519.CrossRefPubMedGoogle Scholar
  25. 25.
    Waters KA, Everett F, Sillence D, Fagan E, Sullivan CE. Breathing abnormalities in sleep in achondroplasia. Arch Dis Child 1993;69:191–196.CrossRefPubMedPubMedCentralGoogle Scholar
  26. 26.
    Boor R, Fricke G, Brühl K, Spranger J. Abnormal subcortical somatosensory evoked potentials indicate high cervical myelopathy in achondroplasia. Eur J Pediatr 1999;158:662–667.CrossRefPubMedGoogle Scholar
  27. 27.
    Li L, Müller-Forell W, Oberman B, Boor R. Subcortical somatosensory evoked potentials after median nerve and posterior tibial nerve stimulation in high cervical cord compression of achondroplasia. Brain Dev 2008;30:499–503.CrossRefPubMedGoogle Scholar
  28. 28.
    Shimony N, Ben-Sira L, Sivan Y, Constantini S, Roth J. Surgical treatment for cervicomedullary compression among infants with achondroplasia. Childs Nerv Syst 2015;31:743–750.CrossRefPubMedGoogle Scholar
  29. 29.
    White KK, Bompadre V, Goldberg MJ, Bober MB, Campbell JW, Cho TJ, et al. Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy. Am J Med Genet A 2016;170:42–51.CrossRefGoogle Scholar
  30. 30.
    Goldstein SJ, Shprintzen RJ, Wu RH, Thorpy MJ, Hahm SY, Marion R, et al. Achondroplasia and obstructive sleep apnea: correction of apnea and abnormal sleep-entrained growth hormone release by tracheostomy. Birth Defects Orig Artic Ser 1985;21:93–101.PubMedGoogle Scholar
  31. 31.
    Goldstein SJ, Wu RH, Thorpy MJ, Shprintzen RJ, Marion RE, Saenger P. Reversibility of deficient sleep entrained growth hormone secretion in a boy with achondroplasia and obstructive sleep apnea. Acta Endocrinol (Copenh) 1987;116:95–101.CrossRefGoogle Scholar
  32. 32.
    Elwood ET, Burstein FD, Graham L, Williams JK, Paschal M. Midface distraction to alleviate upper airway obstruction in achondroplastic dwarfs. Cleft Palate Craniofac J 2003;40:100–103.CrossRefPubMedGoogle Scholar
  33. 33.
    Ottonello G, Villa G, Moscatelli A, Diana MC, Pavanello M. Noninvasive ventilation in a child affected by achondroplasia respiratory difficulty syndrome. Paediatr Anaesth 2007;17:75–79.CrossRefPubMedGoogle Scholar
  34. 34.
    Danielpour M, Wilcox WR, Alanay Y, Pressman BD, Rimoin DL. Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia. Report of four cases. J Neurosurg 2007;107:504–507.CrossRefPubMedGoogle Scholar
  35. 35.
    Schiller O, Schwartz M, Bruckheimer E, Michowitz S, Garty BZ. Pulmonary hypertension in an infant with achondroplasia. Pediatr Neurosurg 2008;44:341–343.CrossRefPubMedGoogle Scholar
  36. 36.
    DelRosso LM, Gonzalez-Toledo E, Hoque R. A three-month-old achondroplastic baby with both obstructive apneas and central apneas. J Clin Sleep Med 2013;9:287–289.PubMedPubMedCentralGoogle Scholar
  37. 37.
    Della Marca G, Testani E, Losurdo A, Zampino G. Periodic sighs. Sleep Med 2013;14:1224–1225.CrossRefPubMedGoogle Scholar
  38. 38.
    Zaffanello M, Lo Tartaro P, Piacentini G, Cantalupo G, Gasperi E, Antoniazzi F. Sleep disordered breathing in a cohort of children with achondroplasia: correlation between clinical and instrumental findings. Minerva Pediatr 2015.Google Scholar
  39. 39.
    Stokes DC, Phillips JA, Leonard CO, Dorst JP, Kopits SE, Trojak JE, et al. Respiratory complications of achondroplasia. J Pediatr 1983;102:534–541.CrossRefPubMedGoogle Scholar
  40. 40.
    Nelson FW, Hecht JT, Horton WA, Butler IJ, Goldie WD, Miner M. Neurological basis of respiratory complications in achondroplasia. Ann Neurol 1988;24:89–93.CrossRefPubMedGoogle Scholar
  41. 41.
    Hecht JT, Nelson FW, Butler IJ, Horton WA, Scott CI, Wassman ER, et al. Computerized tomography of the foramen magnum: achondroplastic values compared to normal standards. Am J Med Genet 1985;20:355–360.CrossRefPubMedGoogle Scholar
  42. 42.
    Waters KA, Kirjavainen T, Jimenez M, Cowell CT, Sillence DO, Sullivan CE. Overnight growth hormone secretion in achondroplasia: deconvolution analysis, correlation with sleep state, and changes after treatment of obstructive sleep apnea. Pediatr Res 1996;39:547–553.CrossRefPubMedGoogle Scholar
  43. 43.
    Zucconi M, Calori G, Castronovo V, Ferini-Strambi L. Respiratory monitoring by means of an unattended device in children with suspected uncomplicated obstructive sleep apnea: a validation study. Chest 2003;124:602–607.CrossRefPubMedGoogle Scholar
  44. 44.
    Sisk EA, Heatley DG, Borowski BJ, Leverson GE, Pauli RM. Obstructive sleep apnea in children with achondroplasia: surgical and anesthetic considerations. Otolaryngol Head Neck Surg 1999;120:248–254.CrossRefPubMedPubMedCentralGoogle Scholar
  45. 45.
    King JA, Vachhrajani S, Drake JM, Rutka JT. Neurosurgical implications of achondroplasia. J Neurosurg Pediatr 2009;4:297–306.CrossRefPubMedGoogle Scholar
  46. 46.
    Schlüter B, De Sousa G, Trowitzsch E, Andler W. Diagnostics and management of sleep-related respiratory disturbances in children with skeletal dysplasia caused by FGFR3 mutations (achondroplasia and hypochondroplasia). Georgian Med News 2011:63–72.Google Scholar
  47. 47.
    Ireland PJ, Johnson S, Donaghey S, Johnston L, Ware RS, Zankl A, et al. Medical management of children with achondroplasia: evaluation of an Australasian cohort aged 0-5 years. J Paediatr Child Health 2012;48:443–449.CrossRefPubMedGoogle Scholar
  48. 48.
    Mukherjee D, Pressman BD, Krakow D, Rimoin DL, Danielpour M. Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia: review of an 11-year surgical case series. J Neurosurg Pediatr 2014;14:238–244.CrossRefPubMedGoogle Scholar
  49. 49.
    Zucconi M, Weber G, Castronovo V, Ferini-Strambi L, Russo F, Chiumello G, et al. Sleep and upper airway obstruction in children with achondroplasia. J Pediatr 1996;129:743–749.CrossRefPubMedGoogle Scholar
  50. 50.
    Pauli RM, Horton VK, Glinski LP, Reiser CA. Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia. Am J Hum Genet 1995;56:732–744.PubMedPubMedCentralGoogle Scholar
  51. 51.
    White KK, Parnell SE, Kifle Y, Blackledge M, Bompadre V. Is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia? Am J Med Genet A 2016;170:32–41.CrossRefGoogle Scholar
  52. 52.
    Lyford-Lyford-Pike S, Hoover-Fong J, Tunkel DE. Otolaryngologic manifestations of skeletal dysplasias in children. Otolaryngol Clin North Am 2012;45:579–598, vii.CrossRefGoogle Scholar
  53. 53.
    Collop NA, Anderson WM, Boehlecke B, Claman D, Goldberg R, Gottlieb DJ, et al. Clinical guidelines for the use of unattended portable monitors in the diagnosis of obstructive sleep apnea in adult patients. Portable Monitoring Task Force of the American Academy of Sleep Medicine. J Clin Sleep Med 2007;3:737–747.PubMedGoogle Scholar
  54. 54.
    Rosen CL, Larkin EK, Kirchner HL, Emancipator JL, Bivins SF, Surovec SA, et al. Prevalence and risk factors for sleepdisordered breathing in 8-to 11-year-old children: association with race and prematurity. J Pediatr 2003;142:383–389.CrossRefPubMedPubMedCentralGoogle Scholar
  55. 55.
    Goodwin JL, Enright PL, Kaemingk KL, Rosen GM, Morgan WJ, Fregosi RF, et al. Feasibility of using unattended polysomnography in children for research—report of the Tucson Children’s Assessment of Sleep Apnea study (TuCASA). Sleep 2001;24:937–944.CrossRefPubMedGoogle Scholar
  56. 56.
    Marcus CL, Brooks LJ, Draper KA, Gozal D, Halbower AC, Jones J, et al. Diagnosis and management of childhood obstructive sleep apnea syndrome. Pediatrics 2012;130:e714–e755.CrossRefPubMedGoogle Scholar
  57. 57.
    Iber C, Ancoli-Israel S, Chesson A, Quan SF. The AASM Manual for the Scoring of Sleep and Associated Events: Rules, Terminology and Technical Specifications, 1st ed. Westchester, Illinois: American Academy of Sleep Medicine, 2007.Google Scholar
  58. 58.
    Alonso-Álvarez ML, Terán-Santos J, Ordax Carbajo E, Cordero-Guevara JA, Navazo-Egüia AI, Kheirandish-Gozal L, et al. Reliability of home respiratory polygraphy for the diagnosis of sleep apnea in children. Chest 2015;147:1020–1028.CrossRefPubMedGoogle Scholar
  59. 59.
    Moss D, Urschitz MS, von Bodman A, Eitner S, Noehren A, Urschitz-Duprat PM, et al. Reference values for nocturnal home polysomnography in primary schoolchildren. Pediatr Res 2005;58:958–965.CrossRefPubMedGoogle Scholar
  60. 60.
    Berry RB, Budhiraja R, Gottlieb DJ, Gozal D, Iber C, Kapur VK, et al. Rules for scoring respiratory events in sleep: update of the 2007 AASM Manual for the Scoring of Sleep and Associated Events. Deliberations of the Sleep Apnea Definitions Task Force of the American Academy of Sleep Medicine. J Clin Sleep Med 2012;8:597–619.PubMedPubMedCentralGoogle Scholar
  61. 61.
    Horemuzova E, Katz-Salamon M, Milerad J. Increased inspiratory effort in infants with a history of apparent lifethreatening event. Acta Paediatr 2002;91:280–286; discussion 260-281.CrossRefPubMedGoogle Scholar

Copyright information

© Children's Hospital, Zhejiang University School of Medicine and Springer-Verlag Berlin Heidelberg 2016

Authors and Affiliations

  • Marco Zaffanello
    • 1
    • 4
    Email author
  • Gaetano Cantalupo
    • 1
  • Giorgio Piacentini
    • 1
  • Emma Gasperi
    • 1
  • Luana Nosetti
    • 2
  • Paolo Cavarzere
    • 1
  • Diego Alberto Ramaroli
    • 1
  • Aliza Mittal
    • 3
  • Franco Antoniazzi
    • 1
  1. 1.Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, Pediatric DivisionUniversity of VeronaVeronaItaly
  2. 2.Department of PediatricsUniversity of InsubriaVareseItaly
  3. 3.NDMC Medical College and Hindurao HospitalNew DelhiIndia
  4. 4.Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics Pediatric DivisionUniversity of VeronaVeronaItaly

Personalised recommendations