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GTR Home > Conditions/Phenotypes > Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome

Summary

Excerpted from the GeneReview: COMP-Related Pseudoachondroplasia
COMP-related pseudoachondroplasia (COMP-PSACH) is characterized by normal length at birth and normal facies. Often the presenting feature is a waddling gait, recognized at the onset of walking. Typically, the growth rate falls below the standard growth curve by approximately age two years, leading to a moderately severe form of disproportionate short-limb short stature. Joint pain during childhood, particularly in the large joints of the lower extremities, is common. Degenerative joint disease is progressive; approximately 50% of individuals with COMP-PSACH eventually require hip replacement surgery.

Available tests

38 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Genes See tests for all associated and related genes

  • Also known as: CTS2, EDM1, EPD1, MED, PSACH, THBS5, TSP-5, TSP5, COMP
    Summary: cartilage oligomeric matrix protein

Clinical features

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