X-连锁下颌面骨发育不全
X-linked mandibulofacial dysostosis
ORPHA:1131疾病
定义 英文原文（暂无中文）
X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum.
别名
X-连锁下颌面骨发育不全伴肢体畸形
基本事实
- 遗传方式
- X 连锁隐性
- 发病年龄
- 新生儿期
- 患病率
- <1 / 1 000 000
临床表型 24
极常见 99–80%14
- 鳃裂异常 HP:0009794
- 传导性听力受损 HP:0000405
- 下斜睑裂 HP:0000494
- 高腭 HP:0000218
- 颧骨发育不良 HP:0010669
- 小头畸形 HP:0000252
- 小下颌 HP:0000347
- 后旋耳 HP:0000358
- 鼻梁突出 HP:0000426
- 招风耳 HP:0000411
- 感音神经性听力受损 HP:0000407
- 身材矮小 HP:0004322
- 三角脸 HP:0000325
- 蹼颈 HP:0000465
常见 79–30%3
- 眉毛发育不全 HP:0100840
- 隐睾 HP:0000028
- 内眦赘皮 HP:0000286
偶见 29–5%7
- 二尖瓣形态异常 HP:0001633
- 肺动脉异常 HP:0004414
- 不对称生长 HP:0100555
- 面部不对称 HP:0000324
- 漏斗胸 HP:0000767
- 上睑下垂 HP:0000508
- 肺动脉瓣狭窄 HP:0001642
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）