Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

Nancy Vegas, Zeynep Demir, Christopher T. Gordon*, Sylvain Breton, Vanessa L. Romanelli Tavares, Hugo Moisset, Roseli Zechi-Ceide, Nancy M. Kokitsu-Nakata, Yasuhiro Kido, Sandrine Marlin, Souad Gherbi Halem, Ilse Meerschaut, Bert Callewaert, Brian Chung, Nicole Revencu, Daphné Lehalle, Florence Petit, Evan J. Propst, Blake C. Papsin, John H. PhillipsLinda Jakobsen, Pauline Le Tanno, Julien Thévenon, Julie McGaughran, Erica H. Gerkes, Chiara Leoni, Peter Kroisel, Tiong Y. Tan, Alex Henderson, Paulien Terhal, Lina Basel-Salmon, Adila Alkindy, Susan M. White, Maria R. Passos-Bueno, Véronique Pingault, Loïc De Pontual, Jeanne Amiel*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Auriculocondylar syndrome (ACS) is a rare craniofacial disorder characterized by mandibular hypoplasia and an auricular defect at the junction between the lobe and helix, known as a “Question Mark Ear” (QME). Several additional features, originating from the first and second branchial arches and other tissues, have also been reported. ACS is genetically heterogeneous with autosomal dominant and recessive modes of inheritance. The mutations identified to date are presumed to dysregulate the endothelin 1 signaling pathway. Here we describe 14 novel cases and reassess 25 published cases of ACS through a questionnaire for systematic data collection. All patients harbor mutation(s) in PLCB4, GNAI3, or EDN1. This series of patients contributes to the characterization of additional features occasionally associated with ACS such as respiratory, costal, neurodevelopmental, and genital anomalies, and provides management and monitoring recommendations.

Original languageEnglish
Pages (from-to)582-594
Number of pages13
JournalHuman Mutation
Issue number5
StatePublished - May 2022


FundersFunder number
Université Sorbonne Paris-Cité Pôle de recherche et d'enseignement supérieur
Université Sorbonne Paris‐Cité Pôle de recherche et d'enseignement supérieurSPC/JFG/2013‐031
Agence Nationale de la Recherche
AXA Research Fund


    • EDN1
    • GNAI3
    • PLCB4
    • auriculocondylar syndrome
    • craniofacial anomalies
    • question mark ear


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