Weill-Marchesani Syndrome 2 (WMS2)

Weill-Marchesani综合征2型(来自ICD-11)

别称:

Weill-Marchesani Syndrome 2, Dominant

Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome

Weill-Marchesani Syndrome, Autosomal Dominant

Spherophakia-Brachymorphia Syndrome

Gemss

Wms2

Weill-Marchesani Syndrome, Autosomal Recessive

Autosomal Dominant Weill-Marchesani Syndrome

Mesodermal Dysmorphodystrophy, Congenital

Congenital Mesodermal Dysmorphodystrophy

Weill-Marchesani Syndrome, Type 2

Weill-Marchesani Syndrome

Gemss Syndrome

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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

Weill-Marchesani Syndrome 2，也被称为青光眼-晶状体脱位-微小球状晶状体-僵硬-短小综合征，与Weill-Marchesani Syndrome和Weill-Marchesani Syndrome 1有关，其症状包括关节僵硬。与Weill-Marchesani Syndrome 2有关的重要基因是FBN1（胶原蛋白1）。附属组织包括眼睛和皮肤，相关表型为高腭和骨骼成熟延迟。

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