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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)