侏儒症是指人成年后身高不超过 147 cm 的一种身材矮小的状态。侏儒症可由遗传或疾病所致。
侏儒症可分为:
侏儒症的体征和症状取决于侏儒症的类型:
最常见的不成比例短肢侏儒症类型是软骨发育不全,有以下症状:
SEDC 导致的不成比例侏儒症的症状包括:
成比例侏儒症的症状包括:
侏儒症分为多种类型。大多数侏儒症相关疾病为遗传疾病,但也有一部分可能是由激素失调导致的。
软骨发育不全是最常见的侏儒症形式,约占侏儒症病例的 70%。
80% 的软骨发育不全病例是由于父亲一方的基因 (FGFR3) 突变所致。因此,它可能发生在双亲身高正常的孩子身上。生育小孩时父亲年龄过大是软骨发育不全的风险因素。
生长激素缺乏是导致侏儒症的激素状况的一个例子。一般而言,儿童期生长激素缺乏没有明确原因。但是,已知有一些疾病与生长激素缺乏有关。
侏儒症的并发症和相关疾病在很大程度上取决于涉及的侏儒症类型:
如果是软骨发育不全导致的不成比例侏儒症,其并发症和相关疾病包括:
许多基础综合征与成比例侏儒症有关。最常见的是 Morquio 综合征,其可导致:
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