IMAGe综合征
IMAGe syndrome
ORPHA:85173疾病
定义 英文原文（暂无中文）
A rare genetic disease characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies (such as cryptorchidism, posterior hypospadias, and micropenis). Patients may present shortly after birth with severe adrenal insufficiency. Additional manifestations include postnatal growth failure and delayed bone age, mild developmental delay, macrocephaly, mild facial dysmorphism (with frontal bossing, wide nasal bridge, and small, low-set ears), epiphyseal dysplasia, and hypercalcemia/hypercalciuria, among others.
别名
宫内发育迟缓-干骺端发育不良-先天性肾上腺发育不良-生殖器畸形综合征
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
相关基因 2
| 基因 | 名称 | 关联类型 |
|---|---|---|
| CDKN1C | cyclin dependent kinase inhibitor 1C | Disease-causing germline mutation(s) in |
| POLE | DNA polymerase epsilon, catalytic subunit | Disease-causing germline mutation(s) (loss of function) in |
临床表型 13
极常见 99–80%13
- 生殖系统异常 HP:0000078
- 肾上腺发育不良 HP:0000835
- 隐睾 HP:0000028
- 鼻梁塌陷 HP:0005280
- 前额突出 HP:0002007
- 肾积水 HP:0000126
- 性腺功能减退症 HP:0000135
- 尿道下裂 HP:0000047
- 肌张力减退 HP:0001252
- 胎儿宫内发育迟缓 HP:0001511
- 低位耳 HP:0000369
- 干骺端发育不良 HP:0100255
- 短肢 HP:0002983
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）