In this Article

• What is achondroplasia?
• What are the characteristics of achondroplasia?
• How is achondroplasia diagnosed?
• What can be done for patients with achondroplasia?
• How is achondroplasia inherited?
• What if someone with achondroplasia has children?
• What if two people with achondroplasia have children?
• What gene causes achondroplasia?
• Achondroplasia At A Glance
• Achondroplasia Glossary
• Achondroplasia Index

What gene causes achondroplasia?

Achondroplasia is caused by mutations in the FGFR3 gene which codes for a protein (fibroblast growth factor receptor 3) that is important for the maintenance of bone and brain tissues. The mutation limits the process of ossification, or the formation of bone from cartilage. The FGFR3 gene is located on the short (p) arm of chromosome 4 in chromosome band 4p16.3.

Achondroplasia At A Glance

• Achondroplasia is a genetic disorder of bone growth.
  
  
• Achondroplasia is the most common cause of short stature with disproportionately short limbs.
  
  
• The appearance of the person with achondroplasia is characteristic.
  
  
• Intelligence is normal in people with achondroplasia.
  
  
• Complications of achondroplasia can affect the brain and the spinal cord.
  
  
• Achondroplasia is inherited as a dominant trait but 80% of cases are due to new mutations (neither parent has achondroplasia).
  
  
• Achondroplasia can be diagnosed before birth.

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