Hypochondroplasia

Hypochondroplasia is a form of short stature that is characterized by a smaller than average body size. The condition is caused by mutations in the FGFR3 gene, which is responsible for the development and maintenance of bone and brain tissue.

Symptoms

The most common symptom of hypochondroplasia is short stature. Other symptoms may include:

• Limited range of motion in the elbows
• Bowed legs
• Large head with a prominent forehead
• Short fingers
• Broad hands

Causes

Hypochondroplasia is 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. Mutations in the FGFR3 gene cause the protein to be overactive, which interferes with normal bone growth and leads to the short stature seen in hypochondroplasia.

Diagnosis

Diagnosis of hypochondroplasia is usually based on physical features. Genetic testing can confirm a diagnosis.

Treatment

There is currently no cure for hypochondroplasia. Treatment is focused on managing symptoms and may include:

• Physical therapy to improve range of motion
• Surgery to correct bowed legs
• Growth hormone therapy to increase height

Prognosis

The prognosis for individuals with hypochondroplasia is generally good. Most people with the condition have a normal lifespan and are able to lead productive lives.

See also

• Achondroplasia
• Dwarfism
• Genetic disorders
• Bone disorders

References

Hypochondroplasia Resources
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