eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

Achondroplasia: Treatment & Medication

Author: Germaine L Defendi, MD, MS, FAAP, Associate Clinical Professor, Department of Pediatrics, Olive View-UCLA Medical Center
Contributor Information and Disclosures

Updated: Aug 14, 2009

Treatment

Medical Care

  • Closely monitor growth in patients with achondroplasia.
    • Weight, height, and occipitofrontal circumference (OFC) monthly for the first year of life.
    • Measure the upper-to-lower segment ratio.
  • Monitor developmental milestones in gross and fine motor, language and social/adaptive.
  • Perform careful neurologic examinations.
  • Manage frequent middle ear infections and address any concern for hearing loss.
  • Orthodontic evaluation for dental malocclusion and crowding.
  • Control weight to prevent obesity and associated co-morbidities.
  • Therapy using growth hormone (GH) to foster linear growth.
    • The usefulness of GH therapy in patients with achondroplasia needs to be further studied.
    • Effects of GH therapy appear to continue into the second year of treatment. Many practitioners do not recommend this therapy due to the associated effects of increased deposition of abnormal bone and potential to worsen orthopedic issues such as kyphoscoliosis.
  • Anti-inflammatory agents, such as nonsteroidal anti-inflammatory drugs (NSAIDs), are useful to alleviate pain and inflammation for patients with degenerative joint disease.
  • Transgenic mice with achondroplasia have been developed, which can potentially speed the research and development of drugs and provide animal models for gene therapy trials.

Surgical Care

  • Leg-lengthening procedures using distraction osteogenesis have been performed successfully. Successful height increase is reported to be 12-14 inches. Better outcomes are reported with the use of the Orthofix Garches lengthening device along with tenotomy of the Achilles tendon and syndesmosis, which provide the fewest complications with healing indices similar to those of other operative protocols. Another procedure associated with fewer complications in children and adolescents younger than 14 years is tibia, rather than femur, lengthening.
  • In children with signs of craniomedullary compression, surgical treatment to release the compression can improve neurologic, cognitive, and respiratory functions. Indications for the possible need for suboccipital decompression include lower limb hyperreflexia or clonus on examination, central hypopnea demonstrated by polysomnography, and foramen magnum measurements lower than the mean.
  • Lumbar laminectomy can be performed for spinal stenosis, which is a condition that usually manifests in early adulthood.
  • Spinal fusion can be performed for persistent kyphosis that is not improved with bracing and sitting modification.

Consultations

  • Immediately refer patients to a neurologist and/or neurosurgeon for reflex asymmetry, extreme hypotonia, early hand preference, or excessive head growth.
  • Additional referrals may be needed for an ear, nose, and throat (ENT) specialist, orthopedist, pulmonologist, or physical therapist depending on clinical concerns.
  • Refer to geneticists and genetic counselors for prenatal consultations, options for genetic testing and resources for support organizations.
  • Offer psychological support and educational tools to patients who are having difficulty living with disproportionate short stature in today's society.

Diet

  • Hunter et al recommend that children with achondroplasia remain within 1 standard deviation (SD) of the mean weight/height (W/H) curve for people with achondroplasia.

Medication

All of the medical treatments used in children with achondroplasia, including growth hormone (GH), have produced variable results.

Hormones

Study results have been contradictory regarding usefulness of GH in achondroplasia. One study of 35 children with achondroplasia showed an increase in growth velocity in the first 2 years of treatment and safety of growth hormone use for 5 years.3


Growth hormone, human (Nutropin, Genotropin, Humatrope)

Stimulates growth of linear bone, skeletal muscle, and organs. Also stimulates erythropoietin, which increases RBC mass.

Adult

0.1-0.3 mg/d SC initially

Pediatric

GH deficiency: 0.15-0.3 mg/kg/wk SC divided into daily or 6 times/wk injections
Achondroplasia: 0.04 mg/kg/d or 0.1 IU/kg/d SC

Glucocorticoids may decrease growth-promoting effects

Documented hypersensitivity; closed epiphyses, actively growing intracranial tumor, any underlying intracranial lesion

Pregnancy

C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus

Precautions

Caution in diabetes; reconstitute with sterile water for injection if administering to newborns; rotate injection sites to avoid lipodystrophy

More on Achondroplasia

Overview: Achondroplasia
Differential Diagnoses & Workup: Achondroplasia
Treatment & Medication: Achondroplasia
Follow-up: Achondroplasia
Multimedia: Achondroplasia
References
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Further Reading

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Keywords

achondroplasia, short stature, chondrodysplasia, chondrodystrophy, skeletal dysplasia, osteochondrodysplasia, disproportionate short stature, short-limb dwarfism, hypotonia in infancy, megalencephaly, occipitofrontal circumference, OFC, midface hypoplasia, prominent forehead, frontal bossing, rhizomelic limbs, trident hands, brachydactyly, thoracolumbar gibbus, lumbar kyphosis, caudal narrowing of interpedicular spaces, lumbar lordosis, 4p16.3, fibroblast growth factor receptor-3 gene, FGFR3 gene, paternal age effect, autosomal dominant, treatment, diagnosis

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Contributor Information and Disclosures

Author

Germaine L Defendi, MD, MS, FAAP, Associate Clinical Professor, Department of Pediatrics, Olive View-UCLA Medical Center
Germaine L Defendi, MD, MS, FAAP is a member of the following medical societies: Ambulatory Pediatric Association and American Academy of Pediatrics
Disclosure: Nothing to disclose.

Medical Editor

James Bowman, MD, Senior Scholar of Maclean Center for Clinical Medical Ethics, Professor Emeritus, Department of Pathology, University of Chicago
James Bowman, MD is a member of the following medical societies: Alpha Omega Alpha, American Society for Clinical Pathology, American Society of Human Genetics, Central Society for Clinical Research, and College of American Pathologists
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Hagop Youssoufian, MD, MSc, Vice President of Clinical Research, ImClone Systems Incorporated
Hagop Youssoufian, MD, MSc is a member of the following medical societies: American Society for Clinical Investigation, American Society of Clinical Oncology, American Society of Hematology, and American Society of Human Genetics
Disclosure: Nothing to disclose.

CME Editor

Paul D Petry, DO, FACOP, FAAP, Consulting Staff, Freeman Pediatric Care, Freeman Health System
Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association
Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD, Professor, Department of Pediatrics, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics, University of Nebraska Medical Center
Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association
Disclosure: Nothing to disclose.

 
 
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