The Ehlers‐Danlos syndromes (EDS) are a group of heritable, connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. There is phenotypic and genetic variation among the 13 subtypes. The initial genetic findings on EDS were related to alterations in fibrillar collagen, but the elucidation of the molecular basis of many of the subtypes revealed several genes not involved in collagen biosynthesis or structure. However, the genetic basis of the hypermobile type of EDS (hEDS) is still unknown. hEDS is the most common type of EDS and involves generalized joint hypermobility, musculoskeletal manifestations, and mild skin involvement along with the presence of several comorbid conditions. Variability in the spectrum and severity of symptoms and progression of patient phenotype likely depend on age, gender, lifestyle, and expression domains of the EDS genes during development and postnatal life. In this review, we summarize the current molecular, genetic, epidemiologic, and pathogenetic findings related to EDS with a focus on the hypermobile type.

中文翻译：

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Hypermobile Ehlers-Danlos 综合征：复杂的表型、具有挑战性的诊断和知之甚少的原因

Ehlers-Danlos 综合征 (EDS) 是一组以关节过度活动、皮肤过度伸展和组织脆弱为特征的遗传性结缔组织疾病。13个亚型之间存在表型和遗传变异。EDS 的最初遗传发现与纤维状胶原蛋白的改变有关，但对许多亚型的分子基础的阐明揭示了几个不参与胶原蛋白生物合成或结构的基因。然而，超移动型 EDS (hEDS) 的遗传基础仍然未知。hEDS 是最常见的 EDS 类型，包括全身关节过度活动、肌肉骨骼表现、轻度皮肤受累以及几种合并症。症状的范围和严重程度的变化以及患者表型的进展可能取决于年龄，EDS基因在发育和出生后的性别、生活方式和表达域。在这篇综述中，我们总结了当前与 EDS 相关的分子、遗传、流行病学和发病机制的发现，重点是超活动型。