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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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Overview



What is pseudoachondroplasia?

How is pseudoachondroplasia inherited?

What are the features of pseudoachondroplasia?


What is pseudoachondroplasia?

Pseudoachondroplasia is an inherited disorder of bone growth which is characterized by short stature. Other features include short arms and legs, a waddling walk, early-onset joint pain (osteoarthritis), and a limited range of motion at the elbows and hips. Intelligence, facial features and head size are normal. Pseudoachondroplasia is caused by mutations in the COMP gene. This condition is inherited in an autosomal dominant pattern.[1]
Last updated: 1/19/2011

How is pseudoachondroplasia inherited?

Pseudoachondroplasia is inherited in an autosomal dominant pattern, which means having one altered copy of the COMP gene in each cell is enough to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.[1]
Last updated: 10/30/2012

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.