海豹肢畸形，Schinzel型
Phocomelia, Schinzel type
定义 英文原文（暂无中文）
A rare genetic syndrome with limb reduction defects characterized by skeletal malformations comprising absent or hypoplastic pelvic bones (including sacral agenesis or hypoplasia), intercalary limb deficiencies (phocomelia potentially combined with polydactyly, oligodactyly or ectrodactyly), and skull defects (frequently a defect of the occipital bone with or without meningocele). Additional features may include thoracic dystrophy, dysmorphic facial features (dysplastic and large ears, and a high and narrow palate), and genital malformations (Mullerian aplasia, agenesis of the uterus and vagina, micropenis with cryptorchidism). Growth and mental development are not affected.
别名
四肢和骨盆发育不全
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 产前、婴儿期、新生儿期
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| WNT7A | Wnt family member 7A | Disease-causing germline mutation(s) (loss of function) in |
临床表型 31
极常见 99–80%12
- 胫骨形态异常 HP:0002992
- 尺骨缺如 HP:0003982
- 骨盆骨发育不良/发育不全 HP:0009103
- 骶骨发育不良/发育不全 HP:0008517
- 长骨弯曲 HP:0006487
- 不成比例的身材矮小 HP:0003498
- 缺趾/指畸形 HP:0100257
- 腓骨发育不良 HP:0002990
- 手指发育不全 HP:0009380
- 少趾畸形 HP:0001849
- 短肢 HP:0002983
- 甲发育不良 HP:0002164
常见 79–30%6
- 子宫发育不全 HP:0000151
- 桡骨发育不全 HP:0002984
- 胎儿宫内发育迟缓 HP:0001511
- 小下颌 HP:0000347
- 桡骨弯曲 HP:0002986
- 短颈 HP:0000470
偶见 29–5%13
- 肛门闭锁 HP:0002023
- 腭裂 HP:0000175
- 隐睾 HP:0000028
- 腭高而窄 HP:0002705
- 肱桡骨性融合 HP:0003041
- 胎儿水肿 HP:0001789
- 阴茎发育不良 HP:0008736
- 脑脊膜膨出 HP:0002435
- 招风耳 HP:0000411
- 短鼻 HP:0003196
- 颅骨缺损 HP:0001362
- 畸形足 HP:0001883
- 气管食管瘘 HP:0002575
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）