髋关节脱臼-畸形综合征

Dislocation of the hip-dysmorphism syndrome

ORPHA:2412疾病

定义英文原文（暂无中文）

Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995.

别名

Collins-Pope综合征

基本事实

遗传方式: 常染色体隐性
发病年龄: 婴儿期、新生儿期
患病率: <1 / 1 000 000

基因	名称	关联类型
TRIM33	tripartite motif containing 33	Disease-causing germline mutation(s) in

临床表型 20

常见 79–30%15

心脏间隔异常 HP:0001671
腭形态异常 HP:0000174
三尖瓣形态异常 HP:0001702
鼻孔前翻 HP:0000463
先天性髋关节脱位 HP:0001374
鼻嵴凹陷 HP:0000457
手指偏离 HP:0004097
内眦赘皮 HP:0000286
听力异常 HP:0000364
眼距过宽 HP:0000316
关节过度活动 HP:0001382
颧骨扁平 HP:0000272
小口畸形 HP:0000160
前颌骨突出 HP:0010759
宽鼻梁 HP:0000431

偶见 29–5%5

囟门形态异常 HP:0011328
膝关节异常 HP:0002815
泌尿系统异常 HP:0000079
腹股沟疝 HP:0000023
动脉导管未闭 HP:0001643

外部标识与链接

Orphanet OMIM:601450 MONDO:0011081 GARD:1428ICD-10 Q87.2ClinicalTrials.gov 检索

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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）