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Desbuquois综合征

Desbuquois syndrome

ORPHA:1425疾病

定义 英文原文（暂无中文）

Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant, has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies.

别名

Desbuquois发育不良

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 / 1 000 000

相关基因 3

基因名称关联类型
CANT1calcium activated nucleotidase 1Disease-causing germline mutation(s) (loss of function) in
XYLT1xylosyltransferase 1Disease-causing germline mutation(s) (loss of function) in
CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1Disease-causing germline mutation(s) in

临床表型 29

极常见 99–80%16

  • 干骺端形态异常 HP:0000944
  • 股骨颈/头形态异常 HP:0003366
  • 骨骼成熟加速 HP:0005616
  • 鼻孔前翻 HP:0000463
  • 腹壁肌群发育不良/发育不全 HP:0010318
  • 钟形胸 HP:0001591
  • 手指弯曲 HP:0100490
  • 鼻梁塌陷 HP:0005280
  • 不相称的短肢矮小 HP:0008873
  • 青光眼 HP:0000501
  • 智力障碍 HP:0001249
  • 关节过度活动 HP:0001382
  • 髌骨脱位 HP:0002999
  • 眼球突出 HP:0000520
  • 严重的身材矮小 HP:0003510
  • 短颈 HP:0000470

常见 79–30%13

  • 睫毛形态异常 HP:0000499
  • 蓝巩膜 HP:0000592
  • 第五指屈指畸形 HP:0004209
  • 髋外翻 HP:0002673
  • 髋内翻 HP:0002812
  • 肘关节脱位 HP:0003042
  • 膝反屈 HP:0002816
  • 后旋耳 HP:0000358
  • 桡尺骨融合 HP:0002974
  • 脊柱侧弯 HP:0002650
  • 小手 HP:0200055
  • 毛发稀疏 HP:0008070
  • 室间隔缺损 HP:0001629

外部标识与链接

OrphanetOMIM:251450OMIM:615777OMIM:618870MONDO:0015426GARD:1818ICD-10 Q78.8ICD-11 LD24.EClinicalTrials.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）