Close
New

Medscape is available in 5 Language Editions – Choose your Edition here.

 

Achondroplasia Treatment & Management

  • Author: Shital Parikh, MD; Chief Editor: Jeffrey D Thomson, MD  more...
 
Updated: Mar 29, 2016
 

Medical Care

The availability of somatotropin (recombinant human growth hormone) has revolutionized the treatment of short stature.[25] Growth hormone is currently being used to augment the height of patients with achondroplasia. The greatest acceleration in growth velocity is seen during the first year of treatment and in those with the lowest growth velocities before treatment. However, no long-term studies exist to determine final height, nor do any randomized controlled studies exist to justify prolonged treatment with growth hormone in patients with short stature.

For maximum benefit, it is recommended that therapy be intiated at a young age (1-6 years).

Next

Surgical Care

Most of the orthopedic problems encountered in patients with achondroplasia are related to the spine. Craniocervical stenosis, thoracolumbar kyphosis, spinal stenosis, angular deformities of the lower extremities, and lengthening of the short extremities are the orthopedic problems commonly addressed in achondroplasia.[1, 26, 27, 28, 29, 30, 31, 32, 33, 34, 35]

Treatment of spinal canal stenosis

Wide, multilevel laminectomies extending to the pedicles and lateral recesses with foraminotomies may be necessary. Extradural removal of herniated disc material is performed as necessary.[33] The length of decompression usually extends from the lower thoracic spine to the sacrum to prevent recurrence. Maintaining the integrity of facet joints is necessary to prevent postlaminectomy instability. If instability does occur, anterior fusion may be necessary.

To obtain successful results, it is important to ensure that laminectomies are carried out to the appropriate extent, which should be three levels cephalad to the proximal extent of compression, distal to the second sacral level, and lateral to the facet joints. The results of this more extensive approach are encouraging.

Treatment of thoracolumbar kyphosis

Treatment of thoracolumbar kyphosis consists of mere observation for the child who has not begun to walk because spontaneous resolution frequently occurs. Reports exist that demonstrate the efficacy of early prohibition of unsupported sitting.[15]  If wedging of the apical vertebra persists after independent ambulation (typically, wedging of T12 or L1), an extension-type thoracolumbosacral orthosis should be used.

If the thoracolumbar kyphosis persists and measures greater than 30° at age 5 years, then surgery should be performed. Surgery is usually in the form of combined anterior and posterior fusion. Posterior instrumentation generally is not recommended, because of the narrow canal size. Placement of any instrumentation (eg, hooks or sublaminar wires) in the canal is contraindicated because of the marked stenosis and decreased subarachnoid fluid space.

If kyphosis is associated with a neurologic deficit such as paraplegia, laminectomy alone is not indicated, because it can destabilize the spine further. Treatment should consist of anterior cord decompression with strut grafting and posterior fusion.

Correction of genu varum

Surgical correction of genu varum may be required.[36]  This may be in the form of proximal tibiofibular osteotomy or of proximal and distal fibular epiphysiodesis. Osteotomy is performed when rapid correction of symptomatic deformity is required. It can be performed through small incisions without internal fixation, with long-leg cast immobilization for 6 weeks.

Lengthening of limbs

Limb lengthening of the upper and lower extremities is promoted in Europe.[29, 30, 31, 32, 37, 38] However, the Little People of America (LPA) and the Dwarf Athletic Association of America (DAAA) are generally opposed to these procedures (see Overview, Patient Education).

If lengthening is to be performed, any existing angular deformities should be corrected simultaneously. With the current techniques of distraction osteogenesis, 30 cm of length can be gained. Gradual lengthening of the osteotomy callus (callostasis) or through the epiphyseal plates (chondrodiastasis) can be obtained using monolateral frames or Ilizarov ring fixators.[26, 39] The six-segment lengthening (femur, tibia, humerus) can be performed as staged procedures in various sequences.

A potential exists for major complications during six-segment lengthening. Neurologic injury has been reported in 35% of procedures. Foot drop, vascular compromise, soft-tissue contractures, loss of motion, knee subluxation, infection, psychological changes, and death have been reported with extensive lengthening procedures.

Foramen magnum decompression (neurosurgery)

Narrowing of the foramen magnum may result in a variety of neurologic problems in the first several years of life. Significant improvement of severe neurologic symptoms has been reported with foramen magnum decompression and C1 laminectomy; however, prophylactic surgery is not recommended.

Ventriculoperitoneal shunts are indicated for patients with rapidly progressive head enlargement, increased intracranial pressures, or neurologic signs and symptoms. Neurosurgery is also indicated for other neurologic abnormalities, such as Chiari malformation.

Previous
Next

Diet

Nutritional counseling is helpful. Obesity is a lifelong issue, and dietary therapy should be initiated early in life.

Previous
Next

Consultations

The following consultations may be considered:

  • Orthodontist - Maxillary hypoplasia leads to dental crowding and malocclusion, often necessitating orthodontic treatment.
  • Speech therapist - Although most of the speech problems resolve by the time patients are of school age, children with persistent problems should be referred to a speech therapist
  • Otolaryngologist - Early recognition and treatment of chronic otitis media is required to prevent hearing loss; relative hypertrophy of tonsils and adenoids due to midface hypoplasia may require treatment; an otolaryngologist may be involved in the treatment of sleep apnea syndrome, for which tonsillectomy, adenoidectomy, and, rarely, tracheostomy are the procedures performed
  • Geneticist - A clinical geneticist may be of help by providing counseling to the family and may also may be a valuable resource for the pediatrician seeking additional information or consultation; the proper establishment of the mode of inheritance not only aids in genetic counseling but also enables the orthopedist to distinguish achondroplastic dwarfism from other forms of dwarfism, many of which have an autosomal recessive inheritance
  • Pulmonologist - Pulmonary function should be evaluated, and respiratory complications such as apnea, pneumonia, and cyanosis should be avoided
  • Pediatrician - The American Academy of Pediatrics Committee on Genetics has issued guidelines to assist the pediatrician in caring for children with achondroplasia and their families [40] ; occasionally, the pediatrician is called on to advise pregnant women who have been informed of a prenatal diagnosis of achondroplasia
Previous
 
 
Contributor Information and Disclosures
Author

Shital Parikh, MD Associate Professor, Department of Pediatric Orthopedic Surgery, Cincinnati Children's Hospital Medical Center

Shital Parikh, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Medical Association, Orthopaedic Research Society

Disclosure: Nothing to disclose.

Coauthor(s)

Preeti Batra, MD, MBBS Staff Physician, Department of Radiology, VS Hospital, India

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

George H Thompson, MD Director of Pediatric Orthopedic Surgery, Rainbow Babies and Children’s Hospital, University Hospitals Case Medical Center, and MetroHealth Medical Center; Professor of Orthopedic Surgery and Pediatrics, Case Western Reserve University School of Medicine

George H Thompson, MD is a member of the following medical societies: American Orthopaedic Association, Scoliosis Research Society, Pediatric Orthopaedic Society of North America, American Academy of Orthopaedic Surgeons

Disclosure: Received none from OrthoPediatrics for consulting; Received salary from Journal of Pediatric Orthopaedics for management position; Received none from SpineForm for consulting; Received none from SICOT for board membership.

Chief Editor

Jeffrey D Thomson, MD Associate Professor, Department of Orthopedic Surgery, University of Connecticut School of Medicine; Director of Orthopedic Surgery, Department of Pediatric Orthopedic Surgery, Associate Director of Clinical Affairs for the Department of Surgical Subspecialties, Connecticut Children’s Medical Center; President, Connecticut Children's Specialty Group

Jeffrey D Thomson, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons

Disclosure: Nothing to disclose.

Additional Contributors

Mininder S Kocher, MD, MPH Associate Professor of Orthopedic Surgery, Harvard Medical School/Harvard School of Public Health; Associate Director, Division of Sports Medicine, Department of Orthopedic Surgery, Children's Hospital Boston

Mininder S Kocher, MD, MPH is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American College of Sports Medicine, Pediatric Orthopaedic Society of North America, American Association for the History of Medicine, American Orthopaedic Society for Sports Medicine, Massachusetts Medical Society

Disclosure: Received consulting fee from Smith & Nephew Endoscopy for consulting; Received consulting fee from EBI Biomet for consulting; Received consulting fee from OrthoPediatrics for consulting; Received stock from Pivot Medical for consulting; Received consulting fee from pediped for consulting; Received royalty from WB Saunders for none; Received stock from Fixes-4-Kids for consulting.

References
  1. Smoker WR, Khanna G. Imaging the craniocervical junction. Childs Nerv Syst. 2008 Oct. 24(10):1123-45. [Medline].

  2. J. M. Parrot. Les malformations achondrodysplasiques. Bulletins de la Société d’anthropologie de Paris, 1878. 1878.

  3. Bailey JA 2nd. Orthopaedic aspects of achondroplasia. J Bone Joint Surg Am. 1970 Oct. 52(7):1285-301. [Medline].

  4. Nelson MA. Orthopaedic aspects of the chondrodystrophies. The dwarf and his orthopaedic problems. Ann R Coll Surg Engl. 1970 Oct. 47(4):185-210. [Medline].

  5. Horton WA, Hall JG, Hecht JT. Achondroplasia. Lancet. 2007 Jul 14. 370(9582):162-72. [Medline].

  6. Laederich MB, Horton WA. Achondroplasia: pathogenesis and implications for future treatment. Curr Opin Pediatr. 2010 Aug. 22(4):516-23. [Medline].

  7. Baitner AC, Maurer SG, Gruen MB, Di Cesare PE. The genetic basis of the osteochondrodysplasias. J Pediatr Orthop. 2000 Sep-Oct. 20(5):594-605. [Medline].

  8. Wang Q, Green RP, Zhao G, Ornitz DM. Differential regulation of endochondral bone growth and joint development by FGFR1 and FGFR3 tyrosine kinase domains. Development. 2001 Oct. 128(19):3867-76. [Medline].

  9. Carakushansky G, Rosembaum S, Ribeiro MG, et al. Achondroplasia associated with Down syndrome. Am J Med Genet. 1998 May 1. 77(2):168-9. [Medline].

  10. Wynn J, King TM, Gambello MJ, Waller DK, Hecht JT. Mortality in achondroplasia study: A 42-year follow-up. Am J Med Genet A. 2007 Nov 1. 143(21):2502-11. [Medline].

  11. Hoover-Fong JE, McGready J, Schulze KJ, Barnes H, Scott CI. Weight for age charts for children with achondroplasia. Am J Med Genet A. 2007 Oct 1. 143(19):2227-35. [Medline].

  12. Hoover-Fong JE, Schulze KJ, McGready J, Barnes H, Scott CI. Age-appropriate body mass index in children with achondroplasia: interpretation in relation to indexes of height. Am J Clin Nutr. 2008 Aug. 88(2):364-71. [Medline].

  13. Ireland PJ, McGill J, Zankl A, et al. Functional performance in young Australian children with achondroplasia. Dev Med Child Neurol. 2011 Oct. 53(10):944-50. [Medline].

  14. 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. 2011 Nov 23. [Medline].

  15. Lonstein JE. Treatment of kyphosis and lumbar stenosis in achondroplasia. Basic Life Sci. 1988. 48:283-92. [Medline].

  16. Cohen ME, Rosenthal AD, Matson DD. Neurological abnormalities in achondroplastic children. J Pediatr. 1967 Sep. 71(3):367-76. [Medline].

  17. Modaff P, Horton VK, Pauli RM. Errors in the prenatal diagnosis of children with achondroplasia. Prenat Diagn. 1996 Jun. 16(6):525-30. [Medline].

  18. Morgan DF, Young RF. Spinal neurological complications of achondroplasia. Results of surgical treatment. J Neurosurg. 1980 Apr. 52(4):463-72. [Medline].

  19. Erdincler P, Dashti R, Kaynar MY, et al. Hydrocephalus and chronically increased intracranial pressure in achondroplasia. Childs Nerv Syst. 1997 Jun. 13(6):345-8. [Medline].

  20. Lugo N, Becker J, Van Bosse H, et al. Lung volume histograms after computed tomography of the chest with three-dimensional imaging as a method to substantiate successful surgical expansion of the rib cage in achondroplasia. J Pediatr Surg. 1998 May. 33(5):733-6. [Medline].

  21. Song HR, Choonia AT, Hong SJ, Lee SH, Suh SW, Cha IH. Rotational profile of the lower extremity in achondroplasia: computed tomographic examination of 25 patients. Skeletal Radiol. 2006 Dec. 35(12):929-34. [Medline].

  22. Jeong ST, Song HR, Keny SM, Telang SS, Suh SW, Hong SJ. MRI study of the lumbar spine in achondroplasia. A morphometric analysis for the evaluation of stenosis of the canal. J Bone Joint Surg Br. 2006 Sep. 88(9):1192-6. [Medline].

  23. Rollins N, Booth T, Shapiro K. The use of gated cine phase contrast and MR venography in achondroplasia. Childs Nerv Syst. 2000 Sep. 16(9):569-75; discussion 575-7. [Medline].

  24. Moritani T, Aihara T, Oguma E, Makiyama Y, Nishimoto H, Smoker WR. Magnetic resonance venography of achondroplasia: correlation of venous narrowing at the jugular foramen with hydrocephalus. Clin Imaging. 2006 May-Jun. 30(3):195-200. [Medline].

  25. Mehta A, Hindmarsh PC. The use of somatropin (recombinant growth hormone) in children of short stature. Paediatr Drugs. 2002. 4(1):37-47. [Medline].

  26. Bell DF, Boyer MI, Armstrong PF. The use of the Ilizarov technique in the correction of limb deformities associated with skeletal dysplasia. J Pediatr Orthop. 1992 May-Jun. 12(3):283-90. [Medline].

  27. Brooks WC, Gross RH. Genu Varum in Children: Diagnosis and Treatment. J Am Acad Orthop Surg. 1995 Nov. 3(6):326-335. [Medline].

  28. Gil Z, Tauman R, Sivan J, et al. [Neurosurgical aspects in achondroplasia: evaluation and treatment]. Harefuah. 2001 Nov. 140(11):1026-31, 1118. [Medline].

  29. Kashiwagi N, Suzuki S, Seto Y, Futami T. Bilateral humeral lengthening in achondroplasia. Clin Orthop. 2001 Oct. (391):251-7. [Medline].

  30. Mamada K, Nakamura K, Matsushita T, et al. The diameter of callus in leg lengthening: 28 tibial lengthenings in 14 patients with achondroplasia. Acta Orthop Scand. 1998 Jun. 69(3):306-10. [Medline].

  31. Paley D. Current techniques of limb lengthening. J Pediatr Orthop. 1988 Jan-Feb. 8(1):73-92. [Medline].

  32. Peretti G, Memeo A, Paronzini A, Marzorati S. Staged lengthening in the prevention of dwarfism in achondroplastic children: a preliminary report. J Pediatr Orthop B. 1995. 4(1):58-64. [Medline].

  33. Pyeritz RE, Sack GH Jr, Udvarhelyi GB. Thoracolumbosacral laminectomy in achondroplasia: long-term results in 22 patients. Am J Med Genet. 1987 Oct. 28(2):433-44. [Medline].

  34. Ravenscroft A, Rout C. Epidural anaesthesia for caesarean section in an achondroplastic dwarf. Br J Anaesth. 1999 Feb. 82(2):301-3. [Medline].

  35. Lee SH, Modi HN, Song HR, Hazra S, Suh SW, Modi C. Deceleration in maturation of bone during adolescent age in achondroplasia-a retrospective study using RUS scoring system. Skeletal Radiol. 2008 Jul 16. [Medline].

  36. Lee ST, Song HR, Mahajan R, Makwana V, Suh SW, Lee SH. Development of genu varum in achondroplasia: relation to fibular overgrowth. J Bone Joint Surg Br. 2007 Jan. 89(1):57-61. [Medline].

  37. Kim SJ, Agashe MV, Song SH, Choi HJ, Lee H, Song HR. Comparison between upper and lower limb lengthening in patients with achondroplasia: a retrospective study. J Bone Joint Surg Br. 2012 Jan. 94(1):128-33. [Medline].

  38. Schiedel F, Rödl R. Lower limb lengthening in patients with disproportionate short stature with achondroplasia: a systematic review of the last 20 years. Disabil Rehabil. 2011 Nov 23. [Medline].

  39. Koczewski P, Shadi M. [Surgical treatment of short stature of different etiology by the Ilizarov method]. Endokrynol Diabetol Chor Przemiany Materii Wieku Rozw. 2007. 13(3):143-6. [Medline].

  40. American Academy of Pediatrics Committee on Genetics. Health supervision for children with achondroplasia. Pediatrics. 1995 Mar. 95(3):443-51. [Medline].

 
Previous
Next
 
Typical features of person with achondroplastic dwarfism, including normal trunk with rhizomelic shortening and genu varum.
Characteristic skull seen in patients with achondroplasia, with frontal bossing, small foramen magnum, midface hypoplasia, and relative enlargement of skull as compared with face.
Progressive narrowing of coronal interpedicular distance in lumbar spine in patients with achondroplasia. Note characteristic shape of pelvis with horizontal sacral position.
Thoracolumbar kyphosis with narrow lumbar spinal canal and concave posterior bodies in 13-month-old child with achondroplasia.
Typical features of lower limbs in person with achondroplasia, including horizontal acetabular roofs, small sacrosciatic notches, genu varum and ankle varum with relative overgrowth of fibula, and inverted V-shaped distal femoral physis.
MRI showing cervicomedullary compression at foramen magnum in patient with achondroplasia.
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.