Achondroplasia

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Achondroplasia facts

  • 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.

What is achondroplasia?

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Achondroplasia is a genetic (inherited) condition that results in abnormally short stature and is the most common cause of short stature with disproportionately short limbs. The average height of an adult with achondroplasia is 131 cm (52 inches, or 4 foot 4 inches) in males and 124 cm (49 inches, or 4 foot 1 inch) in females.

Although achondroplasia literally means "without cartilage formation," the defect in achondroplasia is not in forming cartilage but in converting it to bone, particularly in the long bones.

Achondroplasia is one of the oldest known birth defects. The frequency of achondroplasia is estimated to range from about 1 in 10,000 births in Latin America to about 12 in 77,000 in Denmark. An average figure worldwide is approximately 1 in 25,000 births.


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