身材矮小-缝间骨-右位心综合征
Short stature-wormian bones-dextrocardia syndrome
ORPHA:2863疾病
定义 英文原文（暂无中文）
A multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymmetry, mild developmental delay, hemimegalencephaly and facial dysmorphism (hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia).
别名
Stratton-Parker综合征
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 25
极常见 99–80%25
- 皮纹异常 HP:0007477
- 人中异常 HP:0000288
- 肛门闭锁 HP:0002023
- 垂体前叶功能减退症 HP:0000830
- 短指（趾） HP:0001156
- 宽牙槽嵴 HP:0000187
- 手指弯曲 HP:0100490
- 认知功能损害 HP:0100543
- 隐睾 HP:0000028
- 牙齿萌出延迟 HP:0000684
- 鼻尖凹陷 HP:0000437
- 右位心 HP:0001651
- 下斜睑裂 HP:0000494
- 高腭 HP:0000218
- 长睫毛 HP:0000527
- 低位耳 HP:0000369
- 小下颌 HP:0000347
- 中段尿道下裂 HP:0012854
- 动脉导管未闭 HP:0001643
- 肾发育不良/不全 HP:0008678
- 身材矮小 HP:0004322
- 痉挛 HP:0001257
- 牙齿发育不全 HP:0009804
- 宽鼻梁 HP:0000431
- 缝间骨 HP:0002645
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）