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Novel features in auriculo-condylar syndrome.

Ruth McGowan¹, Victoria Murday, Esther Kinning

¹Ferguson-Smith Centre for Clinical Genetics, Yorkhill Hospital Department of Maxillofacial Surgery, Southern General Hospital, Glasgow, UK Instituto de Genética Médica y Molecular, Hospital Universitario La Paz, Madrid, Spain.

Clinical Dysmorphology

|August 25, 2010

Summary

Auriculo-condylar syndrome (ACS) presents with varied ear deformities and facial asymmetry. This study identifies new signs like facial clefts, suggesting ACS is underdiagnosed.

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Area of Science:

Genetics
Craniofacial biology
Medical genetics

Background:

Auriculo-condylar syndrome (ACS) is an autosomal dominant disorder characterized by significant phenotypic variability.
Previous descriptions highlight auricular deformities, facial asymmetry, micrognathia, and temporomandibular joint abnormalities.

Observation:

This study reports on nine patients with ACS, including five familial and four singleton cases.
Novel clinical manifestations such as facial clefts and pre-auricular/cheek pits were observed in these patients.

Findings:

The findings expand the known clinical spectrum of Auriculo-condylar syndrome.
The observed novel signs further delineate the phenotypic variability of this condition.

Implications:

The frequent delay in diagnosis suggests ACS is underrecognized in clinical practice.
Increased awareness of these expanded features may improve diagnostic accuracy and patient management for Auriculo-condylar syndrome.