腭裂-大耳-小头畸形综合征
Cleft palate-large ears-small head syndrome
ORPHA:2013疾病
定义 英文原文（暂无中文）
Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadias, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed.
别名
Say-Barber-Hobbs 综合征
基本事实
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
临床表型 19
极常见 99–80%5
- 腭裂 HP:0000175
- 骨成熟延迟 HP:0002750
- 巨耳畸形 HP:0000400
- 小头畸形 HP:0000252
- 身材矮小 HP:0004322
常见 79–30%14
- 乳头发育不全/不良 HP:0006709
- 小精灵脸 HP:0004428
- 牙龈增生 HP:0000212
- 全面发育迟缓 HP:0001263
- 趾甲发育不良 HP:0001800
- 尿道下裂 HP:0000047
- 肌张力减退 HP:0001252
- 小下颌 HP:0000347
- 漏斗胸 HP:0000767
- 招风耳 HP:0000411
- 上睑下垂 HP:0000508
- 末节指骨短 HP:0009882
- 骨骼肌萎缩 HP:0003202
- 手指尺侧偏斜 HP:0009465
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）