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耳髁突综合征是一种罕见的颅面畸形,具有表型的多样性和不完全的外显率,其典型的临床表现三联征为小颌畸形、下颌髁突发育不全及特殊的外耳畸形(问号耳畸形)。该病的基因遗传学研究一直受到关注,现有的研究结果表明,耳髁突综合征可能与EDN1-EDNRA信号通路相关基因的突变有关,目前已知的突变位点有:PLCB4、GNAI3、EDN1。现将对近年来ACS基因遗传学研究成果进行回顾与总结。
Ear condyle syndrome is a rare craniofacial deformity, with phenotypic diversity and incomplete penetrance, the typical clinical manifestations of the triad is a small jaw deformity, mandibular condylar hypoplasia and special external ear Deformity (question mark ear deformity). The genetic genetics of the disease has been the concern, the existing research results show that the ear condyle syndrome may be related to EDN1-EDNRA signaling pathway related mutations, the current known mutations are: PLCB4, GNAI3, EDN1 . In recent years, ACS genetics research results will be reviewed and summarized.