Auriculocondylar syndrome (ARCND) is a genetic and rare craniofacial condition caused by abnormal development of the first and second pharyngeal arches during the embryonic stage and is characterized by peculiar auricular malformations (question mark ears), mandibular condyle hypoplasia, micrognathia and other less-frequent features. GNAI3, PLCB4 and EDN1 have been identified as pathogenic genes in this syndrome so far, all of which are implicated in the EDN1-EDNRA signal pathway. Therefore, ARCND is genetically classified as ARCND1, ARCND2 and ARCND3 based on the mutations in GNAI3, PLCB4 and EDN1, respectively. ARCND is inherited in an autosomal dominant or recessive mode with significant intra- and interfamilial phenotypic variation and incomplete penetrance, rendering its diagnosis difficult and therapies individualized. To raise clinicians’ awareness of the rare syndrome, we focused on the currently known pathogenesis, pathogenic genes, clinical manifestations and surgical therapies in this review.

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Background For patients with congenital defective type of earlobe cleft, repair techniques similar to those used for earlobe lacerations are not suitable due to the presence of certain tissue defects. However, traditional earlobe reconstruction techniques imply the need to form complex flaps using adjacent normal tissues, which may lead to many complications that seem to be too complicated for them. Objectives In this study, we developed a technique to repair the earlobe using residual lobular tissue based on the characteristics of congenitally defective earlobe clefts. Methods We designed a triangular random flap out of the remnant lobular tissue, rotated and embedded into the edge of the remnant earlobe to repair the earlobe. Results In the past 3 years, this technique was applied to 15 patients with congenital defect type earlobe clefts. With this technique, the new earlobe achieved the desired aesthetic results, such as smooth edges and fullness of form, without complicated and unnecessary incisions. It also solves the aesthetic problem of residual lobular tissue on the face. Conclusions Based on the characteristics of the congenitally defective type of earlobe cleft, we innovatively proposed the utilization of residual lobular tissues for earlobe repair, and the feasibility and multiple advantages of this technique have been demonstrated in practice.