面骨发育不全，Palagonia型
Acrofacial dysostosis, Palagonia type
ORPHA:1787疾病
定义 英文原文（暂无中文）
A rare acrofacial dysostosis characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997.
基本事实
- 遗传方式
- 未知
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
临床表型 29
极常见 99–80%13
- 骨成熟延迟 HP:0002750
- 手指并指 HP:0006101
- 前发际低 HP:0000294
- 低位耳 HP:0000369
- 小下颌 HP:0000347
- 面中部后缩 HP:0011800
- 少牙畸形 HP:0000677
- 后旋耳 HP:0000358
- 第四掌骨短 HP:0010044
- 身材矮小 HP:0004322
- 小手 HP:0200055
- 睫毛稀疏 HP:0000653
- 眉尖稀疏 HP:0005338
常见 79–30%8
- 椎体形态异常 HP:0003312
- 宽前额 HP:0000337
- 蒜头鼻 HP:0000414
- 颧骨扁平 HP:0000272
- 短颈 HP:0000470
- 毛发稀疏 HP:0008070
- 多生牙 HP:0011069
- 细眉 HP:0045074
偶见 29–5%8
- 眼睑形态异常 HP:0000492
- 皮肤发育缺陷/不全 HP:0008065
- 皮肤萎缩 HP:0004334
- 腭高而窄 HP:0002705
- 卷发 HP:0003777
- 脊柱侧弯 HP:0002650
- 隐性脊柱裂 HP:0003298
- 单侧唇裂 HP:0100333
外部标识与链接
发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号
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）