pseudoachondroplasia

(redirected from pseudoachondroplastic spondyloepiphysial dysplasia)

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.