罕见病知识库 RareSeen

Weaver综合征

Weaver syndrome

ORPHA:3447疾病

定义 英文原文（暂无中文）

A rare PRC-2 complex-related overgrowth spectrum disorder characterized by pre- and post-natal overgrowth, facial dysmorphism (including hypertelorism, large fleshy ears and retrognathia with the appearance of a 'stuck-on' chin with associated horizontal skin crease) that is easily recognizable in early childhood. Majority of the patients present with mild intellectual disability. Additional variable features include macrocephaly, joint laxity, scoliosis, pectus excavatum, hypo- and/or hypertonia, poor coordination, soft dough skin, clinodactyly, camptodactyly of the fingers and/or toes, umbilical hernia, and a low hoarse cry in infancy. Many clinical features, including facial dysmorphism, attenuate with age. Patients may also have a higher risk of neuroblastoma.

别名

指弯曲畸形-生长过度-特殊面容综合征

基本事实

遗传方式
常染色体显性、不适用
发病年龄
产前、新生儿期
患病率
<1 / 1 000 000

相关基因 3

基因名称关联类型
NSD1nuclear receptor binding SET domain protein 1Candidate gene tested in
EZH2enhancer of zeste 2 polycomb repressive complex 2 subunitDisease-causing germline mutation(s) in
SUZ12SUZ12 polycomb repressive complex 2 subunitDisease-causing germline mutation(s) (loss of function) in

临床表型 42

极常见 99–80%22

  • 指甲形态异常 HP:0001231
  • 干骺端形态异常 HP:0000944
  • 异常低声调 HP:0010300
  • 骨骼成熟加速 HP:0005616
  • 宽前额 HP:0000337
  • 嵌甲 HP:0001814
  • 全面发育迟缓 HP:0001263
  • 声音嘶哑 HP:0001609
  • 眼距过宽 HP:0000316
  • 肌张力增高 HP:0001276
  • 趾甲发育不良 HP:0001800
  • 智力障碍 HP:0001249
  • 长人中 HP:0000343
  • 巨头畸形 HP:0000256
  • 巨耳畸形 HP:0000400
  • 小下颌 HP:0000347
  • 后旋耳 HP:0000358
  • 赘肉 HP:0001582
  • 下颌后缩 HP:0000278
  • 痉挛 HP:0001257
  • 高身材 HP:0000098
  • 薄甲 HP:0001816

常见 79–30%10

  • 宽足 HP:0001769
  • 拇指变宽 HP:0011304
  • 手指弯曲 HP:0100490
  • 深人中沟 HP:0002002
  • 婴儿期喂养困难 HP:0008872
  • 绒毛 HP:0002213
  • 腹股沟疝 HP:0000023
  • 关节僵硬 HP:0001387
  • 巨手 HP:0001176
  • 圆脸 HP:0000311

偶见 29–5%10

  • 心血管系统形态异常 HP:0030680
  • 隐睾 HP:0000028
  • 下斜睑裂 HP:0000494
  • 手指并指 HP:0006101
  • 阴茎发育不良 HP:0008736
  • 关节过度活动 HP:0001382
  • 高弓足 HP:0001761
  • 木屐足 HP:0001852
  • 脊柱侧弯 HP:0002650
  • 马蹄内翻足 HP:0001762

外部标识与链接

OrphanetOMIM:277590MONDO:0010193GARD:7878ICD-10 Q87.3ICD-11 LD2CClinicalTrials.gov 检索

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）