外胚层发育不良，毛发牙齿型
Ectodermal dysplasia, trichoodontoonychial type
ORPHA:1818疾病
定义 英文原文（暂无中文）
Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996.
基本事实
- 发病年龄
- 产前、婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
临床表型 12
极常见 99–80%8
- 牙齿形态异常 HP:0006482
- 趾甲形态异常 HP:0008388
- 鼻异常 HP:0000366
- 缺牙症 HP:0000668
- 背部不规则色素沉着 HP:0007521
- 脂肪萎缩 HP:0100578
- 体毛稀疏 HP:0002231
- 毛发稀疏 HP:0008070
常见 79–30%4
- 睫毛形态异常 HP:0000499
- 眉毛发育不全 HP:0100840
- 乳头发育不全/不良 HP:0006709
- 黑素细胞痣 HP:0000995
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）