颅缝早闭，Herrmann-Opitz型
Craniosynostosis, Herrmann-Opitz type
ORPHA:2145疾病
定义 英文原文（暂无中文）
Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (incl. syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987.
基本事实
- 发病年龄
- 产前
- 患病率
- <1 / 1 000 000
临床表型 24
极常见 99–80%10
- 短头畸形 HP:0000248
- 认知功能损害 HP:0100543
- 手指并指 HP:0006101
- 眼距过宽 HP:0000316
- 胎儿宫内发育迟缓 HP:0001511
- 小下颌 HP:0000347
- 短肢 HP:0002983
- 身材矮小 HP:0004322
- 手劈裂 HP:0001171
- 尖头畸形 HP:0000262
常见 79–30%14
- 肋骨形态异常 HP:0000772
- 对耳轮形态异常 HP:0009738
- 上尿路异常 HP:0010935
- 尿道异常 HP:0000795
- 肺发育缺陷/不全 HP:0006703
- 短指（趾） HP:0001156
- 腭裂 HP:0000175
- 凸鼻嵴 HP:0000444
- 颅缝早闭 HP:0001363
- 颧骨扁平 HP:0000272
- 小耳畸形 HP:0008551
- 羊水过少 HP:0001562
- 短鼻 HP:0003196
- 蹼颈 HP:0000465
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）