多发性硬化-鱼鳞病-VIII因子缺乏综合征

定义 英文原文（暂无中文）

Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992.

基本事实

遗传方式

未知

发病年龄

儿童期

患病率

<1 / 1 000 000

临床表型 12

外部标识与链接