Auriculo-condylar syndrome

Classification according to ICD-10
Q75.8	Other specified congenital malformations of the skull and facial bones
ICD-10 online (WHO version 2019)

The auriculo-condylar syndrome (ACS) is a very rare congenital disease with the main features of bilateral ear - malformations (so-called "question mark ears") ("auriculo"), hypoplastic lower jaw - condyles , microstomy , microgenius , microglossia and asymmetry of the face .

Synonyms are: 'question mark ear' syndrome; Dysgnathia complex ; English Question mark ear syndrome; Auriculocondylar syndrome; ARCND

distribution

The frequency is given as less than 1 in 1,000,000, so far 6 affected families have been described. It is inherited in an autosomal dominant or autosomal recessive manner .

It is a disorder of the embryonic development of the first and second gill arches .

Depending on the underlying mutation , the following types can be distinguished:

Aurikulokondyläres syndrome 1 (ARCND1), autosomal dominant mutations in GNAI3 - gene in chromosome 1 locus p13.3
Auriculocondylar syndrome 2 (ARCND2), autosomal dominant or autosomal recessive, mutations in the PLCB4 gene on chromosome 20 p12.3-p12.2
Auriculocondylar syndrome 3 (ARCND3), autosomal recessive, mutations in the EDN1 gene in chromosome 6 p24.1

The term “question mark ear” syndrome also includes a shape that only affects the ear, i.e. without micrognathy or microstomy.

Congenital Auricular Cleft , (Synonym: Isolated Question Mark Ears), autosomal dominant, mutations in the EDN1 gene in chromosome 6 p24.1

Clinical criteria are:

Manifestation as a newborn or as a toddler
Symmetrical malformation of the auricle with a gap between the earlobe and the upper parts of the ear ("question mark", "question mark"), possibly also smoother, less folded or dorsally rotated auricles
Malformation of the lower jaw with a narrow chin (micrognathia), shortened condyle and often impaired joint function in the temporomandibular joint .

Furthermore, hypotonia , ptosis , cleft palate , chubby cheeks, deafness and dyspnoea are added.

The diagnosis results from the clinical findings, can be recognized intrauterine by means of fine ultrasound and confirmed by genetic testing .

MJ Papagrigorakis, M. Karamolegou, G. Vilos, C. Apostolidis, K. Karamesinis, PN Synodinos: Auriculo-condylar syndrome. In: The Angle orthodontist. Vol. 82, No. 3, May 2012, pp. 556-564, doi: 10.2319 / 052911-356.1 , PMID 22050072 .