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跖骨软骨病

Osteochondrosis of the metatarsal bone

ORPHA:564003疾病

定义 英文原文(暂无中文)

A rare bone disease characterized by avascular necrosis of a metatarsal head, most commonly involving the second, but also the third or fourth, metatarsal. Patients may present with pain on weight-bearing, swelling, and tenderness. Radiological features include widening of the metatarsophalangeal joint space and flattening of the affected metatarsal head, at later stages metatarsal head sclerosis, cortical thickening, and intra-articular loose bodies. The condition can be bilateral in some cases and shows a significant predilection for females in the second or third decade of life.

别名

跖骨无菌性坏死

基本事实

遗传方式
不适用
发病年龄
青少年期、成年期

临床表型 19

常见 79–30%15

  • 跖骨骨骺形态异常 HP:0010630
  • 第二跖骨异常 HP:0040034
  • 关节疼痛 HP:0002829
  • 关节炎 HP:0001369
  • 软骨炎 HP:0100662
  • 扁平跖骨头 HP:0005194
  • 足痛 HP:0025238
  • 步态异常 HP:0001288
  • 关节僵硬 HP:0001387
  • 骨软骨炎 HP:0040188
  • 下肢水肿 HP:0010741
  • 关节渐进性受损 HP:0005187
  • 足骨硬化 HP:0100925
  • 足结构性畸形 HP:0010219
  • 骨皮质增厚 HP:0100039

偶见 29–5%2

  • 第三跖骨异常 HP:0010672
  • 缺血性坏死 HP:0010885

罕见 <4–1%2

  • 第五跖骨异常 HP:0008089
  • 第四跖骨异常 HP:0040035

外部标识与链接

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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)