Pseudoachondroplasia

Pseudoachondroplasia is an inherited disorder of bone growth. It was once thought to be related to another disorder of bone growth, called achondroplasia, but without that disorder's characteristic facial features. More research has demonstrated that pseudoachondroplasia is a separate disorder.

All people with pseudoachondroplasia have short stature. The average height of adult males with this condition is 120 centimeters (3 feet, 11 inches), and the average height of adult females is 116 centimeters (3 feet, 9 inches). Individuals with pseudoachondroplasia are not unusually short at birth; by the age of two, their growth rate falls below the standard growth curve.

Other characteristic features of pseudoachondroplasia include short arms and legs, a waddling walk, early-onset joint pain (osteoarthritis), and a limited range of motion at the elbows and hips. Some individuals develop abnormal curvatures of the spine (scoliosis and/or lordosis) during childhood. People with pseudoachondroplasia have normal facial features, head size, and intelligence.

How common is pseudoachondroplasia?

The exact prevalence of pseudoachondroplasia is unknown; it is estimated to occur in 1 in 30,000 individuals.

 

For more resources and additional details, please visit The Genetics Home Reference

"Pseudoachondroplasia." Genetic Conditions. 2013. <http://ghr.nlm.nih.gov/condition/pseudoachondroplasia;>



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