Spondyloepimetaphyseal Dysplasia, Strudwick Type (SEMDSTWK)
别称:
Spondylometaphyseal Dysplasia
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Strudwick Syndrome
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Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type
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Dappled Metaphysis Syndrome
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Semd, Strudwick Type
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Smed, Strudwick Type
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Semdstwk
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Semdc
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Smd
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Spondyloepiphyseal Dysplasia Congenita with Dappled Metaphyses
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Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
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Smed Strudwick Type
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Smed, Type I
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Smed Type 1
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Smed Type I
基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
Spondyloepimetaphyseal dysplasia, Strudwick type is a genetic bone disorder characterized by disproportionate short stature, pectus carinatum, scoliosis, and skeletal abnormalities like lordosis, flattened vertebrae, coxa vara, and clubfoot. It affects bone growth, leading to dwarfism and vision problems. The condition is associated with mutations in the COL2A1 gene and is a subtype of type II collagenopathies. Radiographically, irregular sclerotic changes in the metaphyses of long bones are observed, described as dappled. Walking and growth disturbances typically manifest in the second year of life, with platyspondyly and distinct hip and knee metaphyseal lesions being common features.