耳聋-小肠憩室-神经病综合征
Deafness-small bowel diverticulosis-neuropathy syndrome
ORPHA:3217疾病
定义 英文原文（暂无中文）
A rare neurologic disease characterized by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities, including progressive loss of gastric motility and small bowel diverticulosis and ulcerations, resulting in cachexia. Additonal neurological manifestations may include dysarthria and absent tendon reflexes, as well as ptosis and external ophthalmoplegia. There have been no further descriptions in the literature since 1985.
别名
听力丧失-小肠憩室-神经病变综合征
基本事实
- 发病年龄
- 儿童期
- 患病率
- <1 / 1 000 000
临床表型 16
极常见 99–80%8
- 恶病质 HP:0004326
- 慢性腹泻 HP:0002028
- 十二指肠溃疡 HP:0002588
- 肌电图异常 HP:0003457
- 偏瘫 HP:0002301
- 吸收不良 HP:0002024
- 感音神经性听力受损 HP:0000407
- 脂肪泻 HP:0002570
常见 79–30%4
- 异常言语模式 HP:0002167
- 咽部异常 HP:0000600
- 腱反射减弱 HP:0001265
- 上睑下垂 HP:0000508
偶见 29–5%4
- 眼球运动异常 HP:0000496
- 短指（趾） HP:0001156
- 光感性皮肤 HP:0000992
- 短掌 HP:0004279
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）