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Jeune syndrome

ORPHA:474疾病中国目录 第1批 · 7

定义 英文原文（暂无中文）

Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including 'trident' aspect of the acetabula and metaphyseal changes.

别名

新生儿窒息性胸腔营养不良

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 / 100 000（Europe）

相关基因 11

基因名称关联类型
IFT80intraflagellar transport 80Disease-causing germline mutation(s) in
DYNC2H1dynein cytoplasmic 2 heavy chain 1Disease-causing germline mutation(s) in
TTC21Btetratricopeptide repeat domain 21BDisease-causing germline mutation(s) in
WDR19WD repeat domain 19Disease-causing germline mutation(s) in
IFT140intraflagellar transport 140Disease-causing germline mutation(s) in
DYNC2I1dynein 2 intermediate chain 1Disease-causing germline mutation(s) in
IFT172intraflagellar transport 172Disease-causing germline mutation(s) in
DYNC2I2dynein 2 intermediate chain 2Disease-causing germline mutation(s) in
CEP120centrosomal protein 120Disease-causing germline mutation(s) in
DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1Disease-causing germline mutation(s) in
KIAA0753KIAA0753Disease-causing germline mutation(s) in

临床表型 24

极常见 99–80%6

  • 肋骨形态异常 HP:0000772
  • 骨盆带骨形态异常 HP:0002644
  • 短肢 HP:0002983
  • 窄胸 HP:0000774
  • 胸部短小 HP:0010306
  • 骨骼发育不良 HP:0002652

常见 79–30%7

  • 干骺端形态异常 HP:0000944
  • 胸骨形态异常 HP:0000766
  • 锁骨形态异常 HP:0000889
  • 短指（趾） HP:0001156
  • 锥形骨骺 HP:0010579
  • 呼吸功能不全 HP:0002093
  • 短足 HP:0001773

偶见 29–5%11

  • 视网膜色素异常 HP:0007703
  • 肝脏异常 HP:0001392
  • 肺发育缺陷/不全 HP:0006703
  • 婴儿期喂养困难 HP:0008872
  • 肾结核 HP:0000090
  • 肾病 HP:0000112
  • 轴后多趾 HP:0001830
  • 轴后多指畸形 HP:0001162
  • 肾功能不全 HP:0000083
  • 身材矮小 HP:0004322
  • 并趾 HP:0001770

近两年的全球研究 72L2

2024/10 起在 Europe PMC 检索所得，按发表时间倒序显示最近 20 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。

  • 2026-09综述开放获取
    Congenital Chest Wall Deformities in Children: A Narrative Review
    Children (Basel, Switzerland) · DOI · Europe PMC
  • 2026-09病例报告开放获取
    Biallelic WDR19 Variants: Systematic Analysis of Genotype-Phenotype Correlations
    Human mutation · DOI · Europe PMC
  • 2026-09综述开放获取
    Congenital hepatic fibrosis and related ciliopathies across the life course: current management, disease burden, and unmet needs in the era of genomic diagnosis and translational therapeutics
    Frontiers in pediatrics · DOI · Europe PMC
  • 2026-08预印本
    Paternal Origin and Subsequent Maternal Inheritance of a Novel FOXL2 Frameshift Variant Underlie Accelerated Ovarian Aging: A Three-Generation BPES-I Family Study
    · DOI
  • 2026-07
    Outcomes of Spinal Deformity Treatment in Asphyxiating Thoracic Dystrophy
    Journal of pediatric orthopedics · DOI · Europe PMC
  • 2026-07病例报告
    Combined Wang Procedure and MatrixRIB Reconstruction for Severe Type II Asphyxiating Thoracic Dysplasia: A Case Report
    Journal of chest surgery · DOI · Europe PMC
  • 2026-07综述开放获取
    NIMA-related kinase family at the nexus of skeletal development and congenital arthrogryposis: coordinated regulation of cell cycle and ciliary dynamics
    Frontiers in genetics · DOI · Europe PMC
  • 2026-07病例报告开放获取
    Case Report: Surgical management of thoracic chondrodysplasia in children: complete mobile thoracic replacement
    Frontiers in surgery · DOI · Europe PMC
  • 2026-07病例报告开放获取
    Transient Nephrotic Syndrome in an Infant With Heterozygous Variants of Uncertain Significance in LMX1B and TTC21B
    Cureus · DOI · Europe PMC
  • 2026-07开放获取
    Base editing-derived models of human WDR34 and WDR60 disease alleles replicate retrograde intraflagellar transport (IFT) and hedgehog signaling defects
    Communications biology · DOI · Europe PMC
  • 2026-06开放获取
    Intraflagellar transport protein IFT172 contains a C-terminal ubiquitin-binding U-box-like domain involved in ciliary signaling
    eLife · DOI · Europe PMC
  • 2026-06病例报告开放获取
    A rare cause of neonatal respiratory distress: Jeune syndrome
    Radiology case reports · DOI · Europe PMC
  • 2026-06开放获取
    Chromosomal Microarray Analysis in Critically Ill Neonates and Children: Diagnostic Yield and Clinical Utility
    Life (Basel, Switzerland)
  • 2026-05综述开放获取
    Case review: adult epithelial type Wilms tumor in a 23-year-old female
    Frontiers in oncology · DOI · Europe PMC
  • 2026-05
    Therapeutic Adjustment According to Bedside Ventilation-Perfusion Measurement in Postoperative Infant With Complex Congenital Heart Disease
    Pediatric pulmonology · DOI · Europe PMC
  • 2026-04综述开放获取
    Driver or passenger? A new assessment of genes in the schizophrenia-associated 3q29 deletion locus for contribution to neurodevelopmental disorders
    Journal of neurodevelopmental disorders · DOI · Europe PMC
  • 2026-04开放获取
    Paediatric Long-Term Home Respiratory Support: Recommendations of the Swiss Society of Paediatric Pulmonology
    Respiration; international review of thoracic diseases · DOI · Europe PMC
  • 2026-04综述
    The Genetics of Primary Ciliary Dyskinesia - Advances and Limitations
    Pediatric pulmonology · DOI · Europe PMC
  • 2026-03开放获取
    Evidence for FOXL2 Association with the Tsc1 Regulatory Region in Mice
    Biomolecules · DOI · Europe PMC
  • 2026-03开放获取
    A Novel Nonsense Variant in Ankyrin Repeat and Sterile Alpha Motif Domain-Containing 6 Promotes Polycystic Kidney Disease in Han:SPRD- Cy Rats and Its Homozygosity Is Prenatally Lethal
    Kidney360 · DOI · Europe PMC

外部标识与链接

OrphanetOMIM:208500OMIM:611263OMIM:613091MONDO:0018770GARD:3049ICD-10 Q77.2ICD-11 LD24.B1ClinicalTrials.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）