Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations (SEDCJD)

脊椎骨骺发育不良伴先天性关节脱臼(来自ICD-11)

别称:

Spondyloepiphyseal Dysplasia

Chst3-Related Skeletal Dysplasia

Chondrodysplasia with Congenital Joint Dislocations, Chst3 Type

Chondrodysplasia with Multiple Dislocations

Spondyloepiphyseal Dysplasia, Omani Type

Humerospinal Dysostosis

Spondyloepiphyseal Dysplasia with Congenital Joint Dyslocations, Chst3 Type

Kozlowski Celermajer Tink Syndrome

Larsen Syndrome, Recessive Type

Humero-Spinal Dysostosis

Sdcd, Chst3 Type

Sedcjd

Cdmd

Hsd

Humero-Spinal Dysostosis with Congenital Heart Disease

Spondyloepiphyseal Dysplasia Omani Type

Spondyloepiphyseal Dysplasia, Congenita

Larsen Syndrome, Autosomal Recessive

Autosomal Recessive Larsen Syndrome

Sed with Luxations, Chst3 Type

Recessive Larsen Syndrome

Mucopolysaccharidosis Iv

Chst3-Related Dysplasia

Chst3 Deficiency

Sed, Omani Type

Sed Omani Type

Omani Type

Sed

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

脊柱-骨骺发育不良伴先天性关节脱位，也称为脊柱-骨骺发育不良，与脊柱-骨骺发育不良先天性和假性软骨发育不良有关，症状包括鸭步和呼吸困难。与脊柱-骨骺发育不良伴先天性关节脱位有关的重要基因是CHST3（糖基硫酸转移酶3），其相关通路/超级通路包括传染病和代谢。在该疾病的背景下，已提到的药物有血管紧张素II和洛沙坦。附属组织包括骨和心脏，相关表型为脊柱侧凸和宽眼距。

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