罕见病知识库 RareSeen

先天性全身性多毛,Ambras型

Congenital generalized hypertrichosis, Ambras type

ORPHA:1023疾病亚型

定义 英文原文(暂无中文)

Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth.

别名

Ambras综合征

基本事实

遗传方式
未知
发病年龄
新生儿期
患病率
<1 / 1 000 000

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)