牙齿-指甲发育不良-脱发综合征
Odonto-onycho dysplasia-alopecia syndrome
ORPHA:2722疾病
定义 英文原文(暂无中文)
Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, café-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985.
基本事实
- 发病年龄
- 新生儿期
- 患病率
- <1 / 1 000 000
临床表型 11
极常见 99–80%11
- 牙齿形态异常 HP:0006482
- 指甲形态异常 HP:0001231
- 脱发 HP:0001596
- 趾甲发育不良 HP:0001800
- 小牙畸形 HP:0000691
- 掌跖角化症 HP:0000982
- 体毛稀疏 HP:0002231
- 疏眉 HP:0045075
- 毛发稀疏 HP:0008070
- 牙齿发育不全 HP:0009804
- 牙列不齐 HP:0000692
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)