9号染色体短臂三体
Trisomy 9p syndrome
ORPHA:236疾病
定义 英文原文（暂无中文）
Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations.
别名
9号染色体短臂三体
基本事实
- 发病年龄
- 产前、新生儿期
- 患病率
- <1 / 1 000 000
临床表型 27
极常见 99–80%15
- 皮纹异常 HP:0007477
- 鼻形态异常 HP:0005105
- 瞳孔形态异常 HP:0000615
- 短头畸形 HP:0000248
- 眼睛深陷 HP:0000490
- 嘴角下弯 HP:0002714
- 全面发育迟缓 HP:0001263
- 指甲发育不良 HP:0001804
- 趾甲发育不良 HP:0001800
- 智力障碍 HP:0001249
- 巨耳畸形 HP:0000400
- 小头畸形 HP:0000252
- 招风耳 HP:0000411
- 短颈 HP:0000470
- 乳头间距宽 HP:0006610
常见 79–30%11
- 双侧单掌横折痕 HP:0007598
- 短指（趾） HP:0001156
- 第五指屈指畸形 HP:0004209
- 牙列拥挤 HP:0000678
- 下斜睑裂 HP:0000494
- 指甲发育不良 HP:0100798
- 眼距过宽 HP:0000316
- 阻生牙 HP:0011079
- 脊柱后凸畸形（驼背） HP:0002808
- 骶骨浅窝 HP:0000960
- 脊柱侧弯 HP:0002650
偶见 29–5%1
- 上唇非中线裂 HP:0100335
外部标识与链接
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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）