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Diseases

Genetic and Rare Diseases Information Center (GARD)

Axial spondylometaphyseal dysplasia


Other Names for this Disease
  • Axial SMD
  • Spondylometaphyseal dysplasia axial type
  • SMD Axial
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Treatment

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How might axial spondylometaphyseal dysplasia be treated? Is growth hormone therapy an option? Is surgery helpful? Can the vision problems be corrected?

There is no specific treatment for axial spondylometaphyseal dysplasia. Symptoms such as lung infections, breathing difficulties, coxa vara, scoliosis, retinitis pigmentosa, and optic atrophy are managed individually. Specialists such as opthmologists, geneticists, and orthopedists work in concert in devloping an individualized treatment plan. We are unaware of any cases describing the use of growth hormone therapies for treatment of short stature caused by axial spondylometaphyseal dysplasia. Treatment of skeletal dysplasias with growth hormone therapy must be done with caution. 

The Little People of America, Inc Web site lists articles on repiratory and breathing problems in people with skeletal dysplasias, including an article titled Breathing Problems Among Little People: When to Be Concerned.

Detailed information related to the management of retinitis pigmentosa can be accessed through GeneReviews and the Treatment and Medication sections of Medscape Reference.

Detailed information related to the management of coxa vara can also be found in the Treatment sections of a Medscape Reference review article on this condition.

Johns Hopkins Department of Orthopedic Surgery offers a Patient Guide to Scoliosis.

MedlinePlus.gov provides information on optic atrophy

Further medical support resources can be found through the Little People of America, Inc.
Last updated: 9/14/2012


GARD Video Tutorial

  • Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.

    Finding Treatment Information

Clinical Trials & Research for this Disease

  • The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Evaluation and Treatment of Skeletal Diseases which may be of interest to you.
Other Names for this Disease
  • Axial SMD
  • Spondylometaphyseal dysplasia axial type
  • SMD Axial
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.