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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Pseudoachondroplasia


Other Names for this Disease

  • PSACH
  • Pseudoachondroplastic dysplasia
  • Pseudoachondroplastic spondyloepiphyseal dysplasia
  • Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
  • Spondyloepiphyseal dysplasia, pseudoachondroplastic
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Symptoms

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What are the features of pseudoachondroplasia?

All individuals with pseudoachondroplasia have short stature. While affected individuals are typically of normal length at birth, their growth rate tends to fall below the standard growth curve by age two. The average height of an adult male is 3 feet, 11 inches and the average height of an adult female is 3 feet, 9 inches. Other 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.[1]
Last updated: 1/19/2011

References
  1. Pseudoachondroplasia. Genetics Home Reference (GHR). February 2008; http://ghr.nlm.nih.gov/condition=pseudoachondroplasia. Accessed 10/30/2012.


Other Names for this Disease
  • PSACH
  • Pseudoachondroplastic dysplasia
  • Pseudoachondroplastic spondyloepiphyseal dysplasia
  • Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
  • Spondyloepiphyseal dysplasia, pseudoachondroplastic
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.