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Survey about achondroplasia
We have designed a questionnaire with the purpose to better know the population connected to achondroplasia.
The questionnaire is optional and anonymous. The data obtained will be used for statistical purposes and to better understand the natural history of achondroplasia. Please consider answering.
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Potential complications of ACH 1

For more information click on the following:

infancy 2 childhood 3 5

  • Obesity – nutritional management is recommended early and throughout life [1].
  • Dental overcrowding - regular dental reviews are recommended [2];
  • Class 3 malocclusion (underbite) - all children should be evaluated for possible orthodontic needs by age 6 [3];
  • 38% of adults suffer from conductive hearing loss , which is thought to be caused by recurrent otitis media in childhood. It's because of hearing loss that it is recommended that otitis media be treated agressively [34];
  • Hydrocephalus is a lifelong risk but it's more likely to develop during infancy (first 2 years of life). CT and MRI should be performed if hydrocephalus is suspected [5].
  • Fixed kyphotic deformity occurs in 15%–30% of adults. It may be caused by uncorrected thoracolumbar kyphotic deformity during childhood and may be implicated in adult onset spinal stenosis [4, 6];
  • Lumbar spinal stenosis, also known by spinal canal stenosis, affects 10% of adults [7]. This compression causes: back pain, peripheral nerve compression, abnormal neurological signs in their legs as numbness or weakness, deep tendon reflexes (typical signs) and bladder or bowel dysfunction. These complications are reversible, but without proper follow-up a rapid deterioration of neurological function may occur. By 20 years of age, approximately 20% of individuals have clinical manifestation of lumbar spinal stenosis. This percentage rises to 80% by sixty years of age - There is the need for adults to have a neurosurgical assessment and, in some cases, a decompressive laminectomy may need to be performed. This surgery is used to remove the back part of the vertebra, called “lamina” that covers your spinal canal [2, 5];
  • Hip contractures that contribute to lordosis (the deep curvature of the lower back), back pain and muscle fatigue. Certain exercises can reduce lordosis and hip-flexion contractures [4, 5].

  • Restriction of elbow rotation and full extension [1]. This reduces the arm span, the ability to reach objects and do private hygiene;
  • Venous access is more difficult due to laxity and excess of skin and subcutaneous tissue (mainly in children) [8].

  • Tibial bowing affects 40% of adults (starts in childhood and progresses to adulthood). Produces recurrent periods of leg pain, discomfort and chronic knee pain. Individuals that show leg pain or altered gait may need corrective surgery [5];
  • Leg pain [5].

  • Possible respiratory difficulties during the last months of pregnancy [9];
  • Cesarean section is usually preferred for delivery because of the small pelvis [1, 9];
  • Due to possible wedging and short pedicles which may lead to narrowing of the spinal canal general anesthetic is preferred for delivery. However, they are at a higher risk of hypoxia [9, 10].
  • Difficult intubation and manual ventilation – it’s difficult to find a good fitting mask for manual ventilation due to macroglossia (enlarged tongue), bad dental occlusion, flattened nasal bridge and a short mandible or relative prognathism. When macroglossia is a problem, insertion of an oropharyngeal airway maintains the airways unobstructed. For tracheal intubation, the premature fusion of the bones at the base of the skull limits cervical extension, making visualization of the pharynx impossible and tube size selection should be made according to weight rather than by age [8, 12];
  • Neuraxial Anesthesia (epidural or spinal anesthesia) is considered technically difficult due to narrow spinal canal/stenosis, reduced epidural space, kyphoscoliosis or vertebral body deformities, has an unperdictably high and an increased risk for venous or dural pucture. However, epidural anesthesia is preferred to spinal anesthesia since it allows for better titration [1011, 13];
  • Risk of cervico-medullary compression or spinal cord ischemia during anesthesia [10];
  • Hypersalivation can make identification of airway structures difficult - administration of an anticholinergic drug before intubation may help [10];
  • Difficult regional anaesthesia with partly unpredictably high spread and increased risk for vernous or dural puncture [10];
  • Increased cardiovascular risk [10];
  • High risk of intraoperative damage caused by positioning [1013].


  1. Horton, W.A., J.G. Hall, and J.T. Hecht, Achondroplasia. The Lancet, 2007. 370(9582): p. 162-172.
  2. Wright, M.J. and M.D. Irving, Clinical management of achondroplasia. Arch Dis Child, 2012. 97(2): p. 129-34.
  3. Hunter, A.G., et al., Medical complications of achondroplasia: a multicentre patient review. Journal of Medical Genetics, 1998. 35(9): p. 705-712.
  4. Ireland, P.J., et al., Optimal management of complications associated with achondroplasia. The Application of Clinical Genetics, 2014. 7: p. 117-125.
  5. Trotter, T.L. and J.G. Hall, Health Supervision for Children With Achondroplasia. Pediatrics, 2005. 116(3): p. 771-783.
  6. Misra, S.N. and H.W. Morgan, Thoracolumbar spinal deformity in achondroplasia. Neurosurg Focus, 2003. 14(1): p. e4.
  7. Unger, S., L. Bonafé, and E. Gouze, Current Care and Investigational Therapies in Achondroplasia. Current Osteoporosis Reports, 2017. 15(2): p. 53-60.
  8. Monedero, P., et al., Is management of anesthesia in achondroplastic dwarfs really a challenge? J Clin Anesth, 1997. 9(3): p. 208-12.
  9. Allanson, J.E. and J.G. Hall, Obstetric and gynecologic problems in women with chondrodystrophies. Obstet Gynecol, 1986. 67(1): p. 74-8. 
  10. Speulda, F.O.E. Anesthesia recommendations for patients suffering from Achondroplasia. 2011 [cited 2017 22/08].
  11. Walts, L.F., G. Finerman, and G.M. Wyatt, Anaesthesia for dwarfs and other patients of pathological small stature. Can Anaesth Soc J, 1975. 22(6): p. 703-9.
  12. Bakhshi, R. G., & Jagtap, S. R. (2011). Combined spinal epidural anesthesia in achondroplastic dwarf for femur surgery. Clinics and Practice, 1(4), e120.
  13. Spiegel, J.E. and M. Hellman, Achondroplasia: Implications of Management Strategies in Anesthesia, in Anesthesiology News2015.
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