Low Placed Ears: A Key Feature in Identifying Goldenhar Syndrome
Low placed ears, a condition whereby the ears are situated lower than the average positioning on the sides of a person’s head, is referenced throughout medical literature as an auxiliary symptom or feature of certain disorders. While it can exist on its own without any associated medical issues, it is often a sign of a deeper condition that requires further investigation. This article will focus on the connection between low placed ears and a genetic disorder known as Goldenhar Syndrome.
Goldenhar Syndrome, also known as Oculo-Auriculo-Vertebral Spectrum (OAVS), is a rare congenital disorder. The hallmarks of this disease often include craniofacial abnormalities like ocular dermoids, vertebral anomalies, and of course, varying kinds of ear anomalies wherein Goldenhar syndrome can be included. The syndrome takes its name from Maurice Goldenhar, a Swiss ophthalmologist who was among the first to describe it comprehensively.
One of the key features often associated with Goldenhar Syndrome is the abnormal development and location of the ears. Often, this manifests as abnormally small (microtia), malformed, or low placed ears. In fact, as a result of the disrupted development of the first and second pharyngeal arches during embryological development, a child born with Goldenhar Syndrome will exhibit specific craniofacial abnormalities, with one or both ears being either underdeveloped, unusually small, or positioned lower than typically observed. Consequently, these ear abnormalities can lead to hearing loss, which is quite common and ought to be regularly screened in children with Goldenhar Syndrome.
Goldenhar Syndrome usually affects one side of the body (unilateral), but can affect both sides (bilateral); it is often evident at birth or shortly thereafter. Along with low placed ears, individuals with Goldenhar Syndrome may also present other physical manifestations such as a small, underdeveloped jaw (mandibular hypoplasia), benign growths of the eye (ocular dermoids), and malformations of the spine (vertebral anomalies).
The understanding and identification of these physical features, such as low placed ears, can greatly assist in the diagnosis and subsequent treatment of individuals with Goldenhar Syndrome. Proper and early diagnosis can enable positive outcomes, with many individuals leading healthy lives by managing the associated symptoms effectively.
Research is ongoing to find the definitive genetic cause of Goldenhar Syndrome as its underlying causes are not yet fully understood. Most cases are sporadic and are thought to be influenced by both genetic and environmental factors. A minuscule subset of Goldenhar Syndrome cases may inherit the condition, suggesting a possible genetic component. Still, at present, no definitive gene mutation has been identified as the root cause.
As such, low placed ears are not merely an aesthetic feature. Their presence can alert medical professionals to potential underlying genetic anomalies such as Goldenhar Syndrome. This serves as a reminder that even the least noticeable facial features can provide essential insights into the overall health and wellbeing of an individual.