智力障碍-多指（趾）畸形-异常毛发综合征
Intellectual disability-polydactyly-uncombable hair syndrome
ORPHA:3082疾病
定义 英文原文（暂无中文）
Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognatism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported.
别名
Kozlowski-Krajewska 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 34
极常见 99–80%34
- 腭形态异常 HP:0000174
- 肋骨形态异常 HP:0000772
- 骨骺形态异常 HP:0005930
- 免疫系统功能异常 HP:0010978
- 对耳轮形态异常 HP:0009738
- 对耳屏形态异常 HP:0009896
- 毛发形态异常 HP:0001595
- 手指发育不良/发育不全 HP:0006265
- 耳垂发育缺陷/不全 HP:0009906
- 眉毛发育不全 HP:0100840
- 脚趾发育不良/发育不全 HP:0001991
- 拇趾骨变宽 HP:0010059
- 第五指屈指畸形 HP:0004209
- 传导性听力受损 HP:0000405
- 隐睾 HP:0000028
- 前额突出 HP:0002007
- 腹壁疝 HP:0004299
- 阴茎发育不良 HP:0008736
- 眼距过窄 HP:0000601
- 智力障碍 HP:0001249
- 脊柱后凸畸形（驼背） HP:0002808
- 下颌前突 HP:0000303
- 跖骨外翻 HP:0010508
- 小下颌 HP:0000347
- 鼻梁狭窄 HP:0000446
- 鸡胸 HP:0000768
- 轴后多指畸形 HP:0001162
- 短颈 HP:0000470
- 身材矮小 HP:0004322
- 毛发生长缓慢 HP:0002217
- 并趾 HP:0001770
- 蓬发 HP:0030056
- 睑裂上斜 HP:0000582
- 乳头间距宽 HP:0006610
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）