先天性缺指(趾)-外胚叶发育不全-唇/腭裂综合征的临床和遗传学特点

Clinical and genetic features of ectrodactyly,ectodermal dysplasia and clefting syndrome

目前,以先天性缺指(趾)、并指(趾)或手足裂和外胚叶发育不全伴或不伴腭裂的唇裂为主要临床表现的先天性缺指(趾)-外胚叶发育不全-唇/腭裂(EEC)综合征的病因仍然不明,给疾病的防治带来了较大的困难。迄今为止,分子遗传学研究已定位了EEC综合征的3个基因座,克隆到1个致病基因。EEC综合征临床表现复杂,外显率和表现度在人群中差异较大,临床上还存在一系列症状相似的EEC类似综合征,不易鉴别。本文剖析EEC综合征的临床和遗传学特点,将有利于临床医师进行诊断和鉴别诊断,并为下一步病因学研究提供帮助。

Ectrodactyly, ectodermal dysplasia and clefting （EEC） syndrome is characterized by split hand-split foot malformation, congenital ectodermal dysplasia and cleft lip with or without cleft palate. The etiology of it is still obscure, but one causative gene has been cloned. So far, three suspicious loci and one gene has been identi- fied. The penetrance and expressivity of this disorder has considerable difference among populations. Furthermore, it is difficult to diagnose as there are some EEC like syndromes. Therefore, clear elucidation of EEC syndrome＇s clinical and genetic features will be helpful to make diagnosis and give a direction for proceeding research.