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 ?
Chapman, "Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations, " Human Mutation, vol.
Taylor et al., "Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution, " Human Mutation, vol.
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.
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.3 Cartilage oligomeric matrix protein is found in the extracellular matrix of cartilage, tendon, and ligament and, along with type IX collagen, is a key structural component of the cartilage extracellular matrix.
The natural history of pseudoachondroplasia involves progressive degrees of morbidity.
Pseudoachondroplasia is a rare autosomal disorder with relatively frequent sporadic cases.
Crowder et al., "Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia," Nature Genetics, vol.
Briggs, "Molecular diagnosis is important to confirm suspected pseudoachondroplasia," Journal of Medical Genetics, vol.
Ohashi et al., "Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations," American Journal of Medical Genetics, vol.
Yagci, "Serum or plasma cartilage oligomeric matrix protein concentration as a diagnostic marker in pseudoachondroplasia: differential diagnosis of a family," European Journal of Human Genetics, vol.
Mutations of the COMP gene, encoding the cartilage oligomeric mineral protein, cause pseudoachondroplasia.