PSACH

(redirected from Pseudoachondroplasia)
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AcronymDefinition
PSACHPseudoachondroplasia
References in periodicals archive ?
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 natural history of pseudoachondroplasia includes osteoarthritic changes of the extremities and the spine, which are related to abnormal epiphyseal development, along with joint laxity, and may occur in early adult life.
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.
Mutations of the COMP gene, encoding the cartilage oligomeric mineral protein, cause pseudoachondroplasia.