传导性耳聋-睑下垂-骨骼畸形综合征
Conductive deafness-ptosis-skeletal anomalies syndrome
ORPHA:3236疾病
定义 英文原文（暂无中文）
Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978.
别名
传导性听力丧失-上睑下垂-骨骼异常综合征
基本事实
- 发病年龄
- 无数据
- 患病率
- <1 / 1 000 000
临床表型 16
极常见 99–80%13
- 皮纹异常 HP:0007477
- 牙釉质形态异常 HP:0000682
- 髋骨形态异常 HP:0003272
- 中耳发育缺陷/不全 HP:0008773
- 外耳道闭锁 HP:0000413
- 眼睑裂狭小 HP:0000581
- 第五指屈指畸形 HP:0004209
- 传导性听力受损 HP:0000405
- 肘关节脱位 HP:0003042
- 内眦赘皮 HP:0000286
- 绒毛 HP:0002213
- 鼻梁狭窄 HP:0000446
- 上睑下垂 HP:0000508
常见 79–30%3
- 腭形态异常 HP:0000174
- 双侧单掌横折痕 HP:0007598
- 近视 HP:0000545
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）