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干骺端成骨不全-智力障碍-传导性耳聋综合征

Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome

ORPHA:2502疾病

定义 英文原文（暂无中文）

A rare multiple metaphyseal dysplasia syndrome characterized by metaphyseal dysplasia, short-limb dwarfism (more pronounced in the lower limbs), mild intellectual deficiency and conductive hearing loss that is associated with repeated episodes of otitis media in childhood. Patients usually present with short and cupped ribs, short and broad hands and finger joint laxity. Hyperopia, strabismus, anterior polar cataract, scoliosis, lumbar lordosis and brachydactyly may also be present. There have been no further descriptions in the literature since 1971.

别名

干骺端成骨不全-智力障碍-传导性耳聋综合征

基本事实

遗传方式
常染色体隐性
发病年龄
婴儿期、新生儿期
患病率
<1 / 1 000 000

临床表型 26

极常见 99–80%2

  • 传导性听力受损 HP:0000405
  • 轻度智力障碍 HP:0001256

常见 79–30%22

  • 肘前翼状胬肉 HP:0009760
  • 跖骨发育不良/发育不全 HP:0001964
  • 腿弯曲 HP:0002979
  • 股骨干骺端宽 HP:0006417
  • 宽足 HP:0001769
  • 宽掌 HP:0001169
  • 指（趾）骨增宽 HP:0006009
  • 胫骨干骺端变宽 HP:0006413
  • 不相称的短肢矮小 HP:0008873
  • 马蹄内翻变形 HP:0008110
  • 喇叭状干骺端 HP:0003015
  • 膝内翻 HP:0002970
  • 关节过度活动 HP:0001382
  • 长腓骨 HP:0003085
  • 干骺端发育不良 HP:0100255
  • 干骺端增宽 HP:0003016
  • 髂骨翼狭窄 HP:0002868
  • 反复发作型中耳炎 HP:0000403
  • 股骨颈短 HP:0100864
  • 短足 HP:0001773
  • 长骨短 HP:0003026
  • 短掌 HP:0004279

偶见 29–5%2

  • 远视 HP:0000540
  • 斜视 HP:0000486

外部标识与链接

OrphanetOMIM:250420MONDO:0009599GARD:3566ICD-10 Q87.2ICD-11 LD2H.YClinicalTrials.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）