巨大儿-小眼-腭裂综合征
Macrosomia-microphthalmia-cleft palate syndrome
ORPHA:2432疾病
定义 英文原文（暂无中文）
Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989.
别名
Teebi-Al Saleh-Hassoon综合征
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 11
极常见 99–80%7
- 颅缝或囟门形态异常 HP:0000235
- 宽前额 HP:0000337
- 肝脏肿大 HP:0002240
- 大于胎龄儿 HP:0001520
- 小角膜 HP:0000482
- 小眼症 HP:0000568
- 反复呼吸道感染 HP:0002205
常见 79–30%4
- 颅骨形态异常 HP:0002683
- 角膜混浊 HP:0007957
- 正中腭裂 HP:0009099
- 呼吸功能不全 HP:0002093
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）