Rhizomelic综合征, Urbach亚型
Rhizomelic syndrome, Urbach type
ORPHA:3098疾病
定义 英文原文（暂无中文）
A rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies including short stature, dislocated hips and bifid distal phalanx of the thumb. Craniofacial features include microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia and short neck. Pulmonary stenosis, delayed psychomotor development and mild flexion contractures of the elbows have also been reported. There have been no further descriptions in the literature since 1987.
基本事实
- 发病年龄
- 新生儿期
- 患病率
- <1 / 1 000 000
临床表型 26
极常见 99–80%23
- 椎体形态异常 HP:0003312
- 毛发数量异常 HP:0011362
- 肱骨形态异常 HP:0031095
- 骨骺形态异常 HP:0005930
- 肘部异常 HP:0009811
- 膝关节异常 HP:0002815
- 舌异常 HP:0000157
- 痤疮 HP:0001061
- 短指（趾） HP:0001156
- 认知功能损害 HP:0100543
- 鼻梁塌陷 HP:0005280
- 髋关节脱位 HP:0002827
- 关节活动受限 HP:0001376
- 小头畸形 HP:0000252
- 小下颌 HP:0000347
- 轴前多指 HP:0001177
- 肺动脉瓣狭窄 HP:0001642
- 肢体近端缩短 HP:0008905
- 末节指骨短 HP:0009882
- 短颈 HP:0000470
- 身材矮小 HP:0004322
- 三指节拇指 HP:0001199
- 前囟增宽 HP:0000260
常见 79–30%3
- 腭裂 HP:0000175
- 高腭 HP:0000218
- 脊柱后凸畸形（驼背） HP:0002808
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）