痉挛性截瘫-面部-皮肤损伤综合征
Spastic paraplegia-facial-cutaneous lesions syndrome
ORPHA:2819疾病
定义 英文原文（暂无中文）
A complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982.
别名
Bahemuka-Brown综合征
基本事实
- 发病年龄
- 婴儿期
- 患病率
- <1 / 1 000 000
临床表型 9
极常见 99–80%9
- 异常言语模式 HP:0002167
- 脑电图异常 HP:0002353
- 步态异常 HP:0001288
- 皮肤色素沉着 HP:0000953
- 反射亢进 HP:0001347
- 皮肤色素减退斑 HP:0001053
- 截瘫 HP:0010550
- 痉挛 HP:0001257
- 荨麻疹 HP:0001025
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）