脊髓小脑退行性变-角膜营养不良综合征

定义 英文原文（暂无中文）

A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985.

别名

Der Kaloustian-Jarudi-Khoury综合征

基本事实

遗传方式

常染色体隐性

发病年龄

儿童期、婴儿期

患病率

<1 / 1 000 000

临床表型 9

外部标识与链接