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 ?
Pseudoachondroplasia is inherited in an autosomal dominant manner.
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.