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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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Overview



What is hypochondroplasia?

How might hypochondroplasia be treated?


What is hypochondroplasia?

Hypochondroplasia is a form dwarfism that affects the conversion of cartilage into bone, particularly in the long bones of the arms and legs. Hypochondroplasia is similar to achondroplasia, but the features tend to be milder. People with this condtion usually have short arms and legs and broad, short hands and feet. Other features include a large head, limited range of motion in the elbows, lordosis, and bowed legs. Hypochondroplasia is caused by mutations in the FGFR3 gene and is inherited in an autosomal dominant fashion.[1]
Last updated: 4/29/2011

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.[2]

Developmental intervention and special education may be appropriate, if it is indicated in the affected individual.[2]

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.[2] 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.[2] 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.[2] 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. Hypochondroplasia. Genetics Home Reference. June 2006; http://ghr.nlm.nih.gov/condition/hypochondroplasia. Accessed 4/29/2011.
  2. Clair A Francomano. Hypochondroplasia. GeneReviews. December 12, 2005; http://www.ncbi.nlm.nih.gov/books/NBK1477/. Accessed 8/4/2011.