面部畸形-披巾阴囊-关节松弛综合征
Facial dysmorphism-shawl scrotum-joint laxity syndrome
ORPHA:1778疾病
定义 英文原文（暂无中文）
Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterised by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit.
别名
Seaver-Cassidy 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 24
极常见 99–80%14
- 隐睾 HP:0000028
- 下斜睑裂 HP:0000494
- 内眦赘皮 HP:0000286
- 膝外翻 HP:0002857
- 眼距过宽 HP:0000316
- 颧骨发育不良 HP:0010669
- 低位耳 HP:0000369
- 色素痣 HP:0003764
- 招风耳 HP:0000411
- 上睑下垂 HP:0000508
- 披肩状阴囊 HP:0000049
- 人中扁平 HP:0000319
- 内眦距过宽 HP:0000506
- 宽鼻梁 HP:0000431
常见 79–30%10
- 凝血异常 HP:0001928
- 异常言语模式 HP:0002167
- 声音异常 HP:0001608
- 肘外翻 HP:0002967
- 轻度智力障碍 HP:0001256
- 关节过度活动 HP:0001382
- 大囟门 HP:0000239
- 后发际低 HP:0002162
- 下颌前突 HP:0000303
- 脐疝 HP:0001537
外部标识与链接
发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号
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）