pseudoachondroplasia


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pseu·do·a·chon·dro·pla·si·a

(sū'dō-ă-kon'drō-plā'sē-ă),
A skeletal dysplasia characterized by short-limb dwarfism with leg deformities associated with genu varum or genu valgum and ligamentous laxity, allowing the joints to telescope; normal appearing head and face. Autosomal dominant inheritance [MIM*177150 and MIM*177170] caused by mutation in the cartilage oligomeric matrix protein gene (COMP) on 19p.

pseudoachondroplasia

Any of a heterogeneous group of often AD conditions; the most common is pseudoachondroplastic spondyloepiphyseal dysplasia Clinical Early onset with ↓ limb growth–irregular 'mushroomed' metaphyses, small, irregular and fragmented epiphyses, short bowed diaphyses, flattened vertebrae, lumbar lordosis, scoliosis, kyphosis, 'spatula' ribs, hypermobility of major and acral joints, short hands and feet, contractures of hips and knees, waddling gait, early onset osteoarthritis. Cf Achondroplasia.
References in periodicals archive ?
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.
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.
Mutations of the COMP gene, encoding the cartilage oligomeric mineral protein, cause pseudoachondroplasia.