鱼鳞病-智力障碍-侏儒症-肾损害综合征
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
ORPHA:2278疾病
定义 英文原文（暂无中文）
A rare multiple congenital anomalies syndrome characterized by nonbullous congenital ichthyosis (skin lesions are predominantly detected on the back and extensor surfaces of the limbs, including the flexures; the face is not affected), moderate intellectual disability, dwarfism and renal impairment. Moderate hirsutism may also be present. No significant facial dysmorphism has been reported. There have been no further descriptions in the literature since 1975.
别名
Passwell-Goodman-Siprkowski 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 9
极常见 99–80%4
- 鱼鳞病样红皮病(大疱型)、大疱性鱼鳞病样角化过度症、显性遗传性先天性鱼鳞病、表皮松解性角化过度鱼鳞病 HP:0007479
- 发育迟滞 HP:0001508
- 智力障碍 HP:0001249
- 严重的身材矮小 HP:0003510
常见 79–30%3
- 指甲形态异常 HP:0001231
- 牙列异常 HP:0000164
- 白内障 HP:0000518
偶见 29–5%2
- 氨基酸尿 HP:0003355
- 早发性卵巢功能不全 HP:0008209
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）