角膜皮肤骨综合征
Corneodermatoosseous syndrome
ORPHA:3194疾病
定义 英文原文（暂无中文）
A rare, genetic, ectodermal dysplasia syndrome characterized by corneal epithelial changes (ranging from roughening to nodular irregularities), diffuse palmoplantar hyperkeratosis with thickened, erythematous, scaly lesions affecting the elbows, knees and knuckles, distal onycholysis, brachydactyly accompanied by a single transverse palmar crease, short stature, premature birth, and increased susceptibility to tooth decay. Ocular symptoms include photophobia, reduced night vision, burning and watery eyes, and varying visual acuity. There have been no further descriptions in the literature since 1984.
别名
Stern-Lubinsky-Durrie综合征
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
临床表型 20
极常见 99–80%10
- 牙釉质形态异常 HP:0000682
- 指甲缺失 HP:0001817
- 短指（趾） HP:0001156
- 龋齿 HP:0000670
- 角膜营养不良 HP:0001131
- 掌跖角化症 HP:0000982
- 畏光 HP:0000613
- 严重的身材矮小 HP:0003510
- 短掌 HP:0004279
- 皮肤增厚 HP:0001072
常见 79–30%7
- 指甲形态异常 HP:0001231
- 掌骨形态异常 HP:0005916
- 手指形态异常 HP:0001167
- 手异常 HP:0001155
- 红斑 HP:0010783
- 牙龈炎 HP:0000230
- 早产 HP:0001622
偶见 29–5%3
- 听力受损 HP:0000365
- 昼盲 HP:0012047
- 夜盲症 HP:0000662
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）