Learn About Hypochondroplasia

What is the definition of Hypochondroplasia?

Hypochondroplasia is a form of short-limbed dwarfism. This condition affects the conversion of cartilage into bone (a process called ossification), particularly in the long bones of the arms and legs. Hypochondroplasia is similar to another skeletal disorder called achondroplasia, but the features tend to be milder.

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What are the causes of Hypochondroplasia?

About 70 percent of all cases of hypochondroplasia are caused by mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Although it remains unclear how FGFR3 mutations lead to the features of hypochondroplasia, researchers believe that these genetic changes cause the protein to be overly active. The overactive FGFR3 protein likely interferes with skeletal development and leads to the disturbances in bone growth that are characteristic of this disorder.

How prevalent is Hypochondroplasia?

The incidence of hypochondroplasia is unknown. Researchers believe that it may be about as common as achondroplasia, which occurs in 1 in 15,000 to 40,000 newborns. More than 200 people worldwide have been diagnosed with hypochondroplasia.

Is Hypochondroplasia an inherited disorder?

Hypochondroplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most people with hypochondroplasia have average-size parents; these cases result from a new mutation in the FGFR3 gene. In the remaining cases, people with hypochondroplasia have inherited an altered FGFR3 gene from one or two affected parents. Individuals who inherit two altered copies of this gene typically have more severe problems with bone growth than those who inherit a single FGFR3 mutation.

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What are the latest Hypochondroplasia Clinical Trials?
Local Registry for Data Collection of Patients With Achondroplasia / Hypochondroplasia for Epidemiological, Care and Research Studies
Summary: This registry is a observational, single-center study designed to collect clinical data on patients with achondroplasia and hypochondroplasia.
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Who are the sources who wrote this article ?

Published Date: October 01, 2012Published By: National Institutes of Health

What are the Latest Advances for Hypochondroplasia?
Evaluation of Efficacy of Long-term Growth Hormone Therapy in Patients with Hypochondroplasia
Summary: Evaluation of Efficacy of Long-term Growth Hormone Therapy in Patients with Hypochondroplasia
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