13号染色体长臂非远端三体
Non-distal duplication 13q syndrome
ORPHA:1702疾病
定义 英文原文（暂无中文）
Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (incl. microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated.
别名
13号染色体长臂非远端重复
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
- 睫毛形态异常 HP:0000499
- 染色体分离异常 HP:0002916
- 对耳轮形态异常 HP:0009738
- 耳垂发育缺陷/不全 HP:0009906
- 认知功能损害 HP:0100543
- 血管瘤 HP:0001028
- 眼距过窄 HP:0000601
- 长人中 HP:0000343
- 窄胸 HP:0000774
- 短鼻 HP:0003196
- 连眉 HP:0000664
- 眉毛浓密 HP:0000574
- 下红唇薄 HP:0000233
- 三角头畸形 HP:0000243
- 乳头间距宽 HP:0006610
常见 79–30%11
- 指甲形态异常 HP:0001231
- 牙列异常 HP:0000164
- 细长指(趾) HP:0001166
- 隐睾 HP:0000028
- 下唇唇红外翻 HP:0000232
- 疝 HP:0100790
- 高腭 HP:0000218
- 趾甲发育不良 HP:0001800
- 小头畸形 HP:0000252
- 小下颌 HP:0000347
- 轴后多指畸形 HP:0001162
偶见 29–5%1
- 眼睛发育缺陷/不全 HP:0008056
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）