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Achondroplasia

Authors:
  • Cynthia M. Johnson, MA
Publication Type:

Condition

Achondroplasia

(Achondroplastic Dwarfism)

Definition

Achondroplasia (ACH) is a genetic bone disorder. It is the most common type of dwarfism. Key features are a large head, short limbs, a narrow chest, and short fingers.

Causes

ACH may be caused by:

  • Changes in the FGFR3 gene
  • Advanced age of father

Risk Factors

ACH can happen in people who do not have any known risk factors.

The gene changes can also be passed through a family, though this is not as common.

Symptoms

ACH is often seen at birth. Key features are a large head, short limbs, a narrow chest, and short fingers.

A person with ACH may also have:

  • Short stature—adult height will be 4 to 4½ feet
  • Bowlegs
  • Short toes
  • Parts of the face that are not fully developed
  • Arms that may not be fully straight at the elbow
  • An excessive lower back curve

Diagnosis

A prenatal ultrasound may point to ACH. Genetic testing may be done to confirm it.

ACH may also be suspected during a physical exam at birth. It can be confirmed through x-rays. Rarely, genetic testing may be done if the exam and x-rays are not certain.

Treatment

The goal of treatment is to manage any related health problems. There is no cure for ACH. Choices are:

  • Medicine such as human growth hormone and vosoritide to increase adult height
  • Surgery to treat health problems, such as:
    • Spinal fusion to connect spinal bones to make them more stable
    • Laminectomy to remove parts of spinal bones to ease pressure on the spinal cord
    • Osteotomy to repair severe bowlegs
    • Bone lengthening to cut and divide a bone to encourage more growth
  • Counseling and support groups
Spinal Stenosis.

Copyright © Nucleus Medical Media, Inc.

Stenosis of spine with punched nervehttp://services.epnet.com/getimage.aspx?imageiid=72907290si1931.jpgsi1931.jpgNULLjpgsi1931.jpgNULL\\hgfiler01a\intellect\images\si1931.jpgNULL20NULL2008-11-072483807290_23862Copyright © Nucleus Medical Media, Inc.

Prevention

ACH cannot be prevented.

RESOURCES:

CANADIAN RESOURCES:

CANADIAN RESOURCES:

References

  • Achondroplasia. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/achondroplasia.
  • Achondroplasia. Genetic and Rare Diseases Information Center website. Available at: https://rarediseases.info.nih.gov/diseases/8173/achondroplasia.
  • Legare, J.M. Achondroplasia. GeneReviews, 2022. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1152.
  • 5/25/2022 EBSCO DynaMed Systematic Literature Surveillance https://www.dynamed.com/condition/achondroplasia: FDA approves first drug to improve growth in children with most common form of dwarfism. US Food and Drug Administration website. Available at: https://www.fda.gov/news-events/press-announcements/fda-approves-first-drug-improve-growth-children-most-common-form-dwarfism.

Contributors

  • James P. Cornell, MD
Last Updated:
2022-08-01

(C) Copyright 2022 EBSCO Information Services

This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.