胎儿运动迟缓/运动减退序列

Fetal akinesia deformation sequence

ORPHA:994疾病

定义英文原文（暂无中文）

The fetal akinesia/hypokinesia sequence (or Pena-Shokeir syndrome type I) is characterized by multiple joint contractures, facial anomalies and pulmonary hypoplasia. Whatever the cause, the common feature of this sequence is decreased foetal activity.

别名

关节挛缩多发性先天性-肺发育不全综合征

基本事实

遗传方式: 常染色体隐性
发病年龄: 产前、新生儿期
患病率: 1-9 / 1 000 000（Europe）

相关基因 10

基因	名称	关联类型
RAPSN	receptor associated protein of the synapse	Disease-causing germline mutation(s) (loss of function) in
DOK7	docking protein 7	Disease-causing germline mutation(s) (loss of function) in
KIF21A	kinesin family member 21A	Disease-causing germline mutation(s) (loss of function) in
MAGEL2	MAGE family member L2	Disease-causing germline mutation(s) in
TUBA1A	tubulin alpha 1a	Disease-causing germline mutation(s) in
MUSK	muscle associated receptor tyrosine kinase	Disease-causing germline mutation(s) (loss of function) in
MYOD1	myogenic differentiation 1	Disease-causing germline mutation(s) (loss of function) in
SLC18A3	solute carrier family 18 member A3	Disease-causing germline mutation(s) in
NUP88	nucleoporin 88	Disease-causing germline mutation(s) (loss of function) in
GLDN	gliomedin	Disease-causing germline mutation(s) in

临床表型 24

极常见 99–80%12

掌纹缺失 HP:0010489
运动不能 HP:0002304
先天性多发性关节挛缩 HP:0002804
手指弯曲 HP:0100490
日间睡眠增多 HP:0001262
胎儿运动不能序列征 HP:0001989
运动减少 HP:0002375
胎儿宫内发育迟缓 HP:0001511
小下颌 HP:0000347
多发性关节挛缩 HP:0002828
肺发育不良 HP:0002089
呼吸功能不全 HP:0002093

常见 79–30%9

腭裂 HP:0000175
隐睾 HP:0000028
囊状水瘤 HP:0000476
鼻梁塌陷 HP:0005280
泛发性肌萎缩 HP:0003700
眼距过宽 HP:0000316
羊水过多 HP:0001561
后旋耳 HP:0000358
脊柱侧弯 HP:0002650

偶见 29–5%3

第四脑室孔闭塞综合征（Dandy-Walker畸形） HP:0001305
肠道发育不良 HP:0005245
翼状胬肉 HP:0001059

外部标识与链接

Orphanet OMIM:208150 OMIM:300073 OMIM:617194 MONDO:100101 GARD:9634ICD-10 Q87.8ICD-11 LD2F.1YClinicalTrials.gov 检索

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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）