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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.
King et al., "Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene, " Nature Genetics, vol.
Mustafa et al., "Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia, " Human Mutation, vol.
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.
Pseudoachondroplasia is part of the osteochondrodysplasias, a group of disorders characterized by bone and cartilage maldevelopment.
Individuals with pseudoachondroplasia (PSACH) develop short-limbed dwarfism with notable features of joint laxity, early onset degenerative joint disease, metaphyseal and epiphyseal maldevelopment, and vertebral malformations.
Hecht, "Natural history study of pseudoachondroplasia," American Journal of Medical Genetics, vol.
Hecht, "Pseudoachondroplasia and multiple epiphyseal dysplasia: new etiologic developments," American Journal of Medical Genetics--Seminars in Medical Genetics, vol.
Pseudoachondroplasia is the most common of the group of disorders under the term spondylo-epi-metaphyseal dysplasia.