pseudoachondroplasia

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.