脑白质病-脊柱干骺端发育不良综合征
Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
ORPHA:83629疾病
定义 英文原文（暂无中文）
A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive.
别名
脑白质病-干骺端软骨发育异常综合征
基本事实
- 遗传方式
- X 连锁隐性
- 发病年龄
- 儿童期、婴儿期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| AIFM1 | apoptosis inducing factor mitochondria associated 1 | Disease-causing germline mutation(s) in |
临床表型 23
极常见 99–80%2
- 白质脑病 HP:0002352
- 干骺端软骨发育不良 HP:0005871
常见 79–30%17
- 星形胶质细胞形态异常 HP:0100707
- 脑干核磁共振信号强度异常 HP:0012747
- 视神经形态异常 HP:0000587
- 巴彬斯基征 HP:0003487
- 脑萎缩 HP:0002059
- 手腕膨大 HP:0003020
- 步态异常 HP:0001288
- 反射亢进 HP:0001347
- 胼胝体发育不良 HP:0002079
- 智力障碍 HP:0001249
- 膝关节偏大 HP:0030866
- 锥体束形态异常 HP:0002062
- 骨密度降低 HP:0004349
- 痉挛性截瘫 HP:0001258
- 脚尖步 HP:0030051
- 震颤 HP:0001337
- 视觉障碍 HP:0000505
偶见 29–5%4
- 鼻孔前翻 HP:0000463
- 鼻梁塌陷 HP:0005280
- 水平眼震 HP:0000666
- 面中部后缩 HP:0011800
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）