毛发发育不良-干皮病综合征
Trichodysplasia-xeroderma syndrome
ORPHA:3361疾病
定义 英文原文(暂无中文)
Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987.
基本事实
- 发病年龄
- 新生儿期
- 患病率
- <1 / 1 000 000
临床表型 10
极常见 99–80%8
- 毛发干枯 HP:0002299
- 毛发粗糙 HP:0002208
- 干性皮肤 HP:0000958
- 卷发 HP:0003777
- 疏眉 HP:0045075
- 脱发 HP:0002209
- 毛发发育异常 HP:0002552
- 结节性脆发症 HP:0009886
常见 79–30%2
- 脱发 HP:0001596
- 体毛稀疏 HP:0002231
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)