Spondyloepimetaphyseal dysplasia, Strudwick type
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Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision.[1] The name of the condition indicates that it affects the bones of the spine (spondylo-) and two regions near the ends of bones (epiphyses and metaphyses). This type was named after the first reported patient with the disorder.[2] Spondyloepimetaphyseal dysplasia, Strudwick type is a subtype of type II collagenopathies.[3]
Spondyloepimetaphyseal dysplasia, Strudwick type | |
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Other names | Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy |
Spondyloepimetaphyseal dysplasia, Strudwick type is inherited in an autosomal dominant pattern. |
The signs and symptoms of this condition at birth are very similar to those of spondyloepiphyseal dysplasia congenita, a related skeletal disorder. Beginning in childhood, the two conditions can be distinguished in X-ray images by changes in areas near the ends of bones (metaphyses).[4]