毛皮肤发育不良-牙齿蚀变综合征
Trichodermodysplasia-dental alterations syndrome
ORPHA:3353疾病
定义 英文原文（暂无中文）
Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, café-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986.
别名
Pinheiro-Freire Maia-Miranda综合征
基本事实
- 发病年龄
- 新生儿期
- 患病率
- <1 / 1 000 000
临床表型 19
极常见 99–80%8
- 牙齿形态异常 HP:0006482
- 眉毛发育不全 HP:0100840
- 毛发干枯 HP:0002299
- 绒毛 HP:0002213
- 皮肤肿瘤 HP:0008069
- 睫毛稀疏/无睫毛 HP:0200102
- 脱发 HP:0002209
- 牙齿发育不全 HP:0009804
常见 79–30%6
- 牙齿萌出延迟 HP:0000684
- 脊柱前凸过度 HP:0003307
- 掌跖角化症 HP:0000982
- 脊柱侧弯 HP:0002650
- 眉尖稀疏 HP:0005338
- 多生牙 HP:0011069
偶见 29–5%5
- 女性内生殖器形态异常 HP:0000008
- 髋骨形态异常 HP:0003272
- 皮脂腺腺瘤 HP:0009720
- 高度远视 HP:0008499
- 多发性咖啡斑 HP:0007565
外部标识与链接
发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号
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）