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.
With the aid of an adequate physical examination and history, the diagnosis of pseudoachondroplasia is delineated from other skeletal dysplasias by radiographic findings.
Pseudoachondroplasia appears to develop secondarily to a mutation within the genes encoding for cartilage oligomeric matrix protein (COMP) on chromosome 19 and is most closely related to multiple epiphyseal dysplasia (MED/EDM1), a disorder also characterized by a mutation of the COMP.
The natural history of pseudoachondroplasia involves progressive degrees of morbidity.
Pseudoachondroplasia is a rare autosomal disorder with relatively frequent sporadic cases.
Retention of cartilage oligomeric matrix protein (COMP) and cell death in redifferentiated pseudoachondroplasia chondrocytes.