10号染色体长臂非远端单体
Non-distal deletion 10q syndrome
ORPHA:1581疾病
定义 英文原文（暂无中文）
Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported.
别名
10号染色体长臂非末端着丝粒单体
基本事实
- 发病年龄
- 产前、新生儿期
- 患病率
- Not yet documented
临床表型 15
极常见 99–80%7
- 共济失调 HP:0001251
- 双侧单掌横折痕 HP:0007598
- 认知功能损害 HP:0100543
- 内眦赘皮 HP:0000286
- 步态异常 HP:0001288
- 肌张力减退 HP:0001252
- 斜视 HP:0000486
常见 79–30%1
- 睑裂上斜 HP:0000582
偶见 29–5%7
- 双侧顶骨部收窄 HP:0004422
- 短指（趾） HP:0001156
- 第五指屈指畸形 HP:0004209
- 指交叠 HP:0010557
- 上睑下垂 HP:0000508
- 连眉 HP:0000664
- 宽鼻梁 HP:0000431
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）