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泪管-耳-齿-指综合征

Lacrimoauriculodentodigital syndrome

ORPHA:2363疾病

定义 英文原文（暂无中文）

A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system, anomalies of the ears with sensorineural or mixed hearing loss, hypoplasia, aplasia or atresia of the salivary glands, dental anomalies, and digital malformations. Patients present obstruction of the nasal lacrimal ducts that can lead to epiphora, and chronic conjunctivitis due to alacrimia. Aplasia or hypoplasia of the salivary glands lead to dry mouth and early onset of severe dental caries. Dental features include late tooth eruption, small and peg-shaped lateral maxillary incisors and mild enamel dysplasia. The digital features are variable and include fifth finger clinodactyly, duplication of the distal phalanx of the thumb, triphalangeal thumb, and/or syndactyly. Unilateral radial aplasia and radial-ulnar synostosis have also been reported in association.

别名

泪管-耳-齿-指综合征

基本事实

遗传方式
常染色体显性
发病年龄
产前、新生儿期
患病率
<1 / 1 000 000

相关基因 3

基因名称关联类型
FGF10fibroblast growth factor 10Disease-causing germline mutation(s) in
FGFR3fibroblast growth factor receptor 3Disease-causing germline mutation(s) in
FGFR2fibroblast growth factor receptor 2Disease-causing germline mutation(s) in

临床表型 63

极常见 99–80%1

  • 牙列异常 HP:0000164

常见 79–30%11

  • 手指/脚趾形态异常 HP:0011297
  • 泪道形态异常 HP:0011481
  • 泪腺形态异常 HP:0011482
  • 耳廓形态异常 HP:0000377
  • 唾液腺形态异常 HP:0010286
  • 牙釉质形态异常 HP:0000682
  • 眼部异常 HP:0000478
  • 龋齿 HP:0000670
  • 泪液分泌增加 HP:0009926
  • 干燥性角结膜炎 HP:0001097
  • 口腔干燥 HP:0000217

偶见 29–5%29

  • 面部形状异常 HP:0001999
  • 拇指形态异常 HP:0001172
  • 泪小点缺失 HP:0001092
  • 拇指缺如 HP:0009777
  • 指（趾）内弯 HP:0030084
  • 传导性听力受损 HP:0000405
  • 角膜新生血管 HP:0011496
  • 角膜溃疡 HP:0012804
  • 杯状耳 HP:0000378
  • 角膜感觉减退 HP:0012155
  • 拇指重复 HP:0009942
  • 牙釉质发育不全 HP:0006297
  • 手指并指 HP:0006101
  • 缺牙症 HP:0000668
  • 泪点发育不全 HP:0007892
  • 桡骨发育不全 HP:0002984
  • 角膜结膜炎 HP:0001096
  • 泪管发育缺陷 HP:0007925
  • 泪腺发育缺陷 HP:0007656
  • 角膜缘干细胞缺乏症 HP:0032107
  • 低位耳 HP:0000369
  • 小牙畸形 HP:0000691
  • 混合性听力受损 HP:0000410
  • 上睑下垂 HP:0000508
  • 复发性角膜糜烂 HP:0000495
  • 感音神经性听力受损 HP:0000407
  • 短拇指 HP:0009778
  • 并指（趾）畸形 HP:0001159
  • 并趾 HP:0001770

罕见 <4–1%22

  • 嗅觉缺失 HP:0000458
  • 关节炎 HP:0001369
  • 双角子宫 HP:0000813
  • 悬雍垂裂 HP:0000193
  • 鼻后孔闭锁 HP:0000453
  • 隐睾 HP:0000028
  • 吞咽困难 HP:0002015
  • 外斜视 HP:0000577
  • 全面发育迟缓 HP:0001263
  • 肾积水 HP:0000126
  • 会厌发育不良 HP:0005349
  • 角膜厚度增加 HP:0011487
  • 小下颌 HP:0000347
  • 小耳畸形 HP:0008551
  • 甲发育不良 HP:0002164
  • 开角型青光眼 HP:0012108
  • 口面裂 HP:0000202
  • 动脉导管未闭 HP:0001643
  • 肾发育不全 HP:0000089
  • 脊柱侧弯 HP:0002650
  • 癫痫发作 HP:0001250
  • 膀胱输尿管返流 HP:0000076

外部标识与链接

OrphanetOMIM:149730OMIM:620192OMIM:620193MONDO:0007872GARD:6848ICD-10 Q87.8ICD-11 LD27.0YClinicalTrials.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）