小头先天性侏儒症，Montreal型
Microcephalic primordial dwarfism, Montreal type
ORPHA:2617疾病
定义 英文原文（暂无中文）
A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970.
别名
鸟头侏儒症，Montreal型
基本事实
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
临床表型 30
极常见 99–80%30
- 皮纹异常 HP:0007477
- 毛发数量异常 HP:0011362
- 腭形态异常 HP:0000174
- 头皮脱发 HP:0002293
- 龋齿 HP:0000670
- 先天性幽门闭锁 HP:0004399
- 凸鼻嵴 HP:0000444
- 隐睾 HP:0000028
- 干性皮肤 HP:0000958
- 脑电图异常 HP:0002353
- 多汗症 HP:0000975
- 反射亢进 HP:0001347
- 肌张力增高 HP:0001276
- 智力障碍 HP:0001249
- 脊柱后凸畸形（驼背） HP:0002808
- 脂肪萎缩 HP:0100578
- 后发际低 HP:0002162
- 小头畸形 HP:0000252
- 小下颌 HP:0000347
- 开牙合 HP:0010807
- 后旋耳 HP:0000358
- 少白头 HP:0002216
- 早衰面容 HP:0007495
- 上睑下垂 HP:0000508
- 骨密度降低 HP:0004349
- 脊柱侧弯 HP:0002650
- 严重的身材矮小 HP:0003510
- 鲨鱼皮样斑 HP:0009721
- 椎体分节缺陷 HP:0003422
- 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）