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4号染色体短臂三体

Trisomy 4p syndrome

ORPHA:1738疾病

定义 英文原文（暂无中文）

Trisomy 4p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypertelorism, enlarged ears with abnormal helix and antihelix, bulbous nose with flat or depressed nasal bridge, long philtrum, retrognathia with pointed chin). Additional features include skeletal (rocker bottom feet, arachnodactyly, camptodactyly) and renal malformations, cardiac defects, ocular abnormalities and abnormal genitalia in males.

别名

4号染色体短臂三体

基本事实

发病年龄
产前、婴儿期、新生儿期
患病率
<1 / 1 000 000

临床表型 30

极常见 99–80%20

  • 毛发分布异常 HP:0010720
  • 腭形态异常 HP:0000174
  • 染色体分离异常 HP:0002916
  • 对耳轮形态异常 HP:0009738
  • 牙列异常 HP:0000164
  • 龋齿 HP:0000670
  • 认知功能损害 HP:0100543
  • 鼻梁塌陷 HP:0005280
  • 眼距过宽 HP:0000316
  • 肌张力减退 HP:0001252
  • 前发际低 HP:0000294
  • 巨耳畸形 HP:0000400
  • 小头畸形 HP:0000252
  • 后旋耳 HP:0000358
  • 圆脸 HP:0000311
  • 短颈 HP:0000470
  • 身材矮小 HP:0004322
  • 人中扁平 HP:0000319
  • 眉毛浓密 HP:0000574
  • 乳头间距宽 HP:0006610

常见 79–30%5

  • 手指弯曲 HP:0100490
  • 隐睾 HP:0000028
  • 骨成熟延迟 HP:0002750
  • 脊柱侧弯 HP:0002650
  • 斜视 HP:0000486

偶见 29–5%5

  • 心血管系统形态异常 HP:0030680
  • 眼睑裂狭小 HP:0000581
  • 尿道下裂 HP:0000047
  • 轴前多指 HP:0001177
  • 桡偏畸形手 HP:0004059

外部标识与链接

OrphanetMONDO:0015767GARD:6091ICD-10 Q92.2ICD-11 LD41.31ClinicalTrials.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）