Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type (SEMDFA)

Faden-Alkuraya型脊椎干骺端发育不良(来自ICD-11)

别称:

Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome

Semdfa

Spondyloepimetaphyseal Dysplasia, Progressive, with Short Stature, Facial Dysmorphism, Short Fourth Metatarsals, and Mental Retardation, with or Without Craniosynostosis

Dysplasia, Spondylopeimetaphyseal, Faden-Alkuraya Type

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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-骨端发育不良，Faden-Alkuraya 型，又称进行性脊柱-骨骺-骨端发育不良-矮身材-第四跖骨短小-智力障碍综合征，与假性髋关节脱位和短指症有关。与脊柱-骨骺-骨端发育不良，Faden-Alkuraya 型相关的基因是 RSPRY1（环指和SPRY域包含1）。相关组织包括骨和脑，相关表型为智力障碍和前额突出

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