Auriculocondylar syndrome; Question mark ears syndrome
Description
Auriculocondylar syndrome (ACS) is a rare craniofacial malformation syndrome characterized by mandibular hypoplasia and question-mark ears (QME). QMEs, consisting of a specific defect at the lobe-helix junction, can also occur as an isolated anomaly. Studies have indicated the essential role of endothelin 1 (EDN1) signaling through the endothelin receptor type A (EDNRA) in patterning the mandibular portion of the first pharyngeal arch. Mutations in the PLCB4 and GNAI3, predicted to function as signal transducers downstream of EDNRA, have recently been reported in ACS.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD25 Syndromes with face or limb anomalies as a major feature
H01884 Auriculocondylar syndrome
Pathway-based classification of diseases [BR:br08402]
Endocrine system
nt06325 Hormone/cytokine signaling
H01884 Auriculocondylar syndrome
Rieder MJ, Green GE, Park SS, Stamper BD, Gordon CT, Johnson JM, Cunniff CM, Smith JD, Emery SB, Lyonnet S, Amiel J, Holder M, Heggie AA, Bamshad MJ, Nickerson DA, Cox TC, Hing AV, Horst JA, Cunningham ML
Title
A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.
Gordon CT, Vuillot A, Marlin S, Gerkes E, Henderson A, AlKindy A, Holder-Espinasse M, Park SS, Omarjee A, Sanchis-Borja M, Bdira EB, Oufadem M, Sikkema-Raddatz B, Stewart A, Palmer R, McGowan R, Petit F, Delobel B, Speicher MR, Aurora P, Kilner D, Pellerin P, Simon M, Bonnefont JP, Tobias ES, Garcia-Minaur S, Bitner-Glindzicz M, Lindholm P, Meijer BA, Abadie V, Denoyelle F, Vazquez MP, Rotky-Fast C, Couloigner V, Pierrot S, Manach Y, Breton S, Hendriks YM, Munnich A, Jakobsen L, Kroisel P, Lin A, Kaban LB, Basel-Vanagaite L, Wilson L, Cunningham ML, Lyonnet S, Amiel J
Title
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.
