SCARF综合征
SCARF syndrome
定义 英文原文（暂无中文）
A rare multiple congenital anomalies syndrome characterized by variable skeletal abnormalities (including craniostenosis, pectus carinatum, short sternum, joint hyperextensibility, and anbnormal vertebrae), cutis laxa with excessive skin folds around the cheek, chin and neck, ambiguous genitalia with a micropenis and perineal hypospadia, an umbilical hernia, intellectual disability, premature aged appearance, and cardiac enlargement involving either the ventricles or atria. Facial dysmorphism is variable and can include multiple hair whorls, ptsosis, high and broad nasal root, low set ears and small chin. Enamel hypocalcification, abnormal modelling of tubular bones, and reduced cutis laxa may become apparent later on. There have been no further descriptions in the literature since 1989.
基本事实
- 遗传方式
- X 连锁隐性
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
临床表型 32
常见 79–30%30
- 椎体形态异常 HP:0003312
- 阴囊对裂 HP:0000048
- 面容粗糙 HP:0000280
- 颅缝早闭 HP:0001363
- 隐睾 HP:0000028
- 皮肤松弛症 HP:0000973
- 腹直肌分离 HP:0001540
- 下斜睑裂 HP:0000494
- 牙釉质发育不全 HP:0006297
- 内眦赘皮 HP:0000286
- 肝细胞腺瘤 HP:0012028
- 牙釉质钙化不全 HP:0011084
- 腹股沟疝 HP:0000023
- 轻度智力障碍 HP:0001256
- 关节过度活动 HP:0001382
- 长人中 HP:0000343
- 后发际低 HP:0002162
- 小阴茎 HP:0000054
- 鸡胸 HP:0000768
- 会阴型尿道下裂 HP:0000051
- 后旋耳 HP:0000358
- 上睑下垂 HP:0000508
- 短颈 HP:0000470
- 短胸骨 HP:0000879
- 毛发稀疏 HP:0008070
- 斜视 HP:0000486
- 脐疝 HP:0001537
- 蹼颈 HP:0000465
- 乳头间距宽 HP:0006610
- 宽鼻底 HP:0012810
偶见 29–5%2
- 乳头发育不良 HP:0002557
- 中度智力障碍 HP:0002342
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）