Achondroplasia

Medical Author:

Melissa Conrad Stöppler, MD

Melissa Conrad Stöppler, MD

Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.

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Medical Editor:

David Perlstein, MD, MBA, FAAP

David Perlstein, MD, MBA, FAAP

Dr. Perlstein received his Medical Degree from the University of Cincinnati and then completed his internship and residency in pediatrics at The New York Hospital, Cornell medical Center in New York City. After serving an additional year as Chief Pediatric Resident, he worked as a private practitioner and then was appointed Director of Ambulatory Pediatrics at St. Barnabas Hospital in the Bronx.

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• 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.

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.