锁骨肩带综合征
Cleidorhizomelic syndrome
ORPHA:1453疾病
定义 英文原文（暂无中文）
Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988.
别名
肢根短缩伴锁骨缺损
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 新生儿期
- 患病率
- <1 / 1 000 000
临床表型 7
极常见 99–80%6
- 锁骨形态异常 HP:0000889
- 短指（趾） HP:0001156
- 第五指屈指畸形 HP:0004209
- 骨干发育不全 HP:0005019
- 肢体近端缩短 HP:0008905
- 第五指中节指骨短 HP:0004220
常见 79–30%1
- 双侧单掌横折痕 HP:0007598
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）