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German综合征

German syndrome

ORPHA:2077疾病

定义 英文原文（暂无中文）

German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987.

别名

German综合征

基本事实

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

临床表型 32

极常见 99–80%21

  • 眉毛形态异常 HP:0000534
  • 异常言语模式 HP:0002167
  • 先天性多发性关节挛缩 HP:0002804
  • 短头畸形 HP:0000248
  • 鼻梁塌陷 HP:0005280
  • 长头畸形 HP:0000268
  • 吞咽困难 HP:0002015
  • 下唇唇红外翻 HP:0000232
  • 全面发育迟缓 HP:0001263
  • 额头高 HP:0000348
  • 运动减少 HP:0002375
  • 肌张力减退 HP:0001252
  • 智力障碍 HP:0001249
  • 关节活动受限 HP:0001376
  • 淋巴水肿 HP:0001004
  • 小下颌 HP:0000347
  • 面中部后缩 HP:0011800
  • 闭口不能 HP:0000194
  • 身材矮小 HP:0004322
  • 斜视 HP:0000486
  • 宽鼻梁 HP:0000431

常见 79–30%6

  • 手指弯曲 HP:0100490
  • 听力异常 HP:0000364
  • 高腭 HP:0000218
  • 口面裂 HP:0000202
  • 短颈 HP:0000470
  • 连眉 HP:0000664

偶见 29–5%5

  • 心脏间隔异常 HP:0001671
  • 外阴性别不明 HP:0000062
  • 隐睾 HP:0000028
  • 下斜睑裂 HP:0000494
  • 法洛四联症 HP:0001636

外部标识与链接

OrphanetOMIM:231080MONDO:0009272ICD-10 Q87.8ClinicalTrials.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）