外胚层发育不良、缺指（趾）畸形和黄斑营养不良综合征
EEM syndrome
ORPHA:1897疾病
定义 英文原文（暂无中文）
A rare ectodermal dysplasia syndrome characterized by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels). Variable additional limb defects (including absence deformities, polydactyly, syndactyly, or camptodactyly) have also been described, the hands often being more severely affected than the feet.
别名
外胚层发育不良-缺指（趾）畸形-黄斑营养不良综合征
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 新生儿期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| CDH3 | cadherin 3 | Disease-causing germline mutation(s) in |
临床表型 16
极常见 99–80%7
- 牙齿形态异常 HP:0006482
- 视网膜色素异常 HP:0007703
- 缺趾/指畸形 HP:0100257
- 黄斑营养不良 HP:0007754
- 视网膜病变 HP:0000488
- 体毛稀疏 HP:0002231
- 脱发 HP:0002209
常见 79–30%8
- 眼部异常 HP:0000478
- 视力异常 HP:0000504
- 眉毛缺失 HP:0002223
- 龋齿 HP:0000670
- 手指并指 HP:0006101
- 小牙畸形 HP:0000691
- 选择性牙齿发育不全 HP:0001592
- 牙间隙增宽 HP:0000687
偶见 29–5%1
- 斜视 HP:0000486
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）