Achondroplasia (cont.)

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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In this Article

• Achondroplasia facts
• 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 Index

Achondroplasia is a distinctive condition that usually can be noted at birth.

• The baby with achondroplasia has a relatively long, narrow torso (trunk) with short extremities (arms and legs) and a disproportionate shortening of the proximal (near the torso) segments of the limbs (the upper arms and thighs).
• There is a typically large head with prominence of the forehead (frontal bossing), underdevelopment (hypoplasia) of the midface with cheekbones that lack prominence, and a low nasal bridge with narrow nasal passages.
• The baby's fingers appear short and the ringer and middle fingers may diverge, giving the hand a trident (three-pronged) appearance. Most joints can extend more than normal. For example, the knees can hyperextend beyond the normal stopping point. Not all joints are lax in this way. To the contrary, extension and rotation of the elbow are abnormally limited. Hip extension also tends to be limited.
• At birth there is often prominence of the mid-to-lower back with a small gibbus (a hump). With walking, the hump goes away and a pronounced sway (lordosis) of the lumbar region (the lower back) becomes apparent. The lumbar lordosis is persistent into adulthood. The legs are bowed (genu varum).
• The baby exhibits some decrease in muscle tone (hypotonia). Because of the large head, especially compared to rest of the body, and the decreased muscle tone, the child with achondroplasia will run behind "schedule" in reaching the usual motor developmental milestones. The schedule to which an achondroplastic child's development should be compared is not that for all children in the general population, but rather the growth charts and timetable followed by children with achondroplasia.
• Intelligence is generally normal in patients with achondroplasia. Enlargement of the brain (megalencephaly) is common and normal with achondroplasia.