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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Hypochondroplasia


Other Names for this Disease
  • HCH
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Treatment


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How might hypochondroplasia be treated?

The evaluation of children with hypochondroplasia usually does not differ significantly from the evaluation of children with normal stature, except for genetic counseling issues (such as risk of recurrence) and dealing with parental concerns about short stature. Management of short stature may be influenced by the concerns and expectations of the parents. One reasonable approach is to address the parents' concerns about the height of their child rather than attempting to treat the child.[1]

Developmental intervention and special education may be appropriate, if it is indicated in the affected individual.[1]

If spinal stenosis (narrowing of the spine) is present, a procedure called a laminectomy may be considered. This is a type of surgery that can take pressure off the spinal nerves or spinal canal. However, one study found that about 70% of symptomatic individuals with achondroplasia experienced total relief of symptoms following decompression, without having a laminectomy.[1] Decompression is a less invasive procedure.

Support groups can help the affected individual and the family adapt to short stature through peer support, personal example, and social awareness programs. Support groups may offer information on employment, education, disability rights, adoption of children of short stature, medical issues, suitable clothing, adaptive devices, and parenting through local meetings, workshops and seminars.[1] To see the contact information for several support groups for hypochondroplasia, click here.

Sometimes, for individuals with hypochondroplasia who are more severely affected, the features may overlap with those of achondroplasia. In these cases, recommendations for the management of achondroplasia (outlined by the American Academy of Pediatrics Committee on Genetics) may be considered.[1] The full report on these recommendations may be viewed here. For a more limited description of management of achondroplasia on our Web site, click here.
Last updated: 8/4/2011

References
  1. Clair A Francomano. Hypochondroplasia. GeneReviews. December 12, 2005; http://www.ncbi.nlm.nih.gov/books/NBK1477/. Accessed 8/4/2011.


Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Hypochondroplasia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
  • 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.