9号染色体短臂远端单倍体
Distal deletion 9p syndrome
定义 英文原文（暂无中文）
Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma.
别名
9号染色体短臂远端单倍体
基本事实
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
临床表型 27
极常见 99–80%15
- 对耳轮形态异常 HP:0009738
- 全面发育迟缓 HP:0001263
- 腭高而窄 HP:0002705
- 眼距过宽 HP:0000316
- 肌张力减退 HP:0001252
- 智力障碍 HP:0001249
- 小耳畸形 HP:0008551
- 面中部后缩 HP:0011800
- 后旋耳 HP:0000358
- 眼球突出 HP:0000520
- 短颈 HP:0000470
- 短鼻 HP:0003196
- 三角头畸形 HP:0000243
- 睑裂上斜 HP:0000582
- 宽鼻梁 HP:0000431
常见 79–30%10
- 耳轮形态异常 HP:0011039
- 牙列异常 HP:0000164
- 耳垂发育缺陷/不全 HP:0009906
- 短指（趾） HP:0001156
- 胸廓扩张 HP:0100625
- 内眦赘皮 HP:0000286
- 疝 HP:0100790
- 大阴唇发育不良 HP:0000059
- 尿道下裂 HP:0000047
- 乳头间距宽 HP:0006610
偶见 29–5%2
- 心血管系统形态异常 HP:0030680
- 腭裂 HP:0000175
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）