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COMP is also associated with pseudoachondroplasia (PSACH), which has more severe features than MED and is characterized by dwarfism, severe osteoarthropathy, scoliosis, a round ilium, and an irregular acetabulum.
Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia.
Individuals with Pseudoachondroplasia have normal head size and facial features.
Pseudoachondroplasia (OMIM 177170) is an autosomal dominant skeletal dysplasia that results in disproportionately (micromelic) short stature, severe brachydactyly with strikingly lax small joints, various malalignments of the lower limbs owing to laxity of the large joints, and characteristic radiological features.
Pseudoachondroplasia was first described by Maroteaux and Lamy in 1959.
The predominant finding of pseudoachondroplasia is irregularity of all long bone metaphyses and epiphyses.
Pseudoachondroplasia is part of the osteochondrodysplasias, a group of disorders characterized by bone and cartilage maldevelopment.
Pseudoachondroplasia is the most common of the group of disorders under the term spondylo-epi-metaphyseal dysplasia.