面部畸形-厌食-恶病质-眼和皮肤异常综合征
Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
ORPHA:1969疾病
定义 英文原文（暂无中文）
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (mild eyelid ptosis, xanthelasma, anterverted nostrils, bifid nasal tip, short palate), severe muscle wasting and cachexia, retinitis pigmentosa, numerous lentigines and café-au-lait spots, as well as mild, soft tissue syndactyly. Additional features include nasal speech, chest asymmetry, pectus excavatum, genu varum, pes planus, and thyroid papillary carcinoma and diffuse enlargement. There have been no further description in the literature since 1984.
别名
Friedman-Goodman综合征
基本事实
- 遗传方式
- 未知
- 发病年龄
- 无数据
- 患病率
- <1 / 1 000 000
临床表型 21
极常见 99–80%8
- 厌食症 HP:0002039
- 鼻孔前翻 HP:0000463
- 恶病质 HP:0004326
- 手指并指 HP:0006101
- 膝内翻 HP:0002970
- 鼻中线缺陷 HP:0004122
- 上睑下垂 HP:0000508
- 身材矮小 HP:0004322
常见 79–30%11
- 视网膜色素异常 HP:0007703
- 甲状腺异常 HP:0000820
- 声音异常 HP:0001608
- 胸廓不对称 HP:0001555
- 脊柱后凸畸形（驼背） HP:0002808
- 黑素细胞痣 HP:0000995
- 多发性咖啡斑 HP:0007565
- 漏斗胸 HP:0000767
- 脊柱侧弯 HP:0002650
- 短硬腭 HP:0010290
- 骨骼肌萎缩 HP:0003202
偶见 29–5%2
- 二尖瓣形态异常 HP:0001633
- 泛发性色素减退 HP:0007513
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）