What are Low Set Ears in Infants?

Low Set Ears (LSE) is a medical term that describes a condition where an infant’s ears are positioned lower on the sides of the head than usally expected. The ears’ physical appearance is typically normal with regards to size and shape. However, it’s their peculiar positioning that characterizes the condition.

The lower setting of an infant’s ears is more of a feature than a disorder in itself. In medical terms, it’s often termed as a clinical sign of certain genetic disorders or chromosomal abnormalities. A common indicator of this is when the ear lobe is level with or below the plane that passes through the bottom of the eye. Low set ears are usually detected at birth during the newborn’s physical examination but may not be apparent initially owing to the changes in the facial structure during infancy and early childhood.

Why are Low Set Ears Clinically Significant?

Low set ears, while not problematic in themselves, can often indicate the presence of other conditions, many of these due to genetic or chromosomal variations. Assessing an infant for low set ears is part of a comprehensive physical exam for newborns as it can assist in early identification of potential health issues. For instance, Down syndrome, Turner syndrome, and Treacher Collins syndrome may all exhibit low set ears as one of their features.

Low Set Ears and Treacher Collins Syndrome

One of the conditions that can accompany low set ears is Treacher Collins Syndrome (TCS), a genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin. The severity of this syndrome can vary from unnoticeable to severe, with around 40-50% of all TCS sufferers having low set ears. This feature, along with others, gives healthcare professionals prompting to further investigate the possibility of this syndrome.

Is there a treatment for Treacher Collins Syndrome?

While there isn’t a cure for TCS, treatment focuses primarily on the specific symptoms in each individual, known as symptomatic treatment. These include surgical interventions, speech therapy, hearing aids, and physiotherapy. It’s a multidisciplinary approach that involves audiologists, plastic surgeons, genetic counsellors, and speech therapists. Remember, early identification and management of TCS can significantly enhance the quality of life of those living with the disorder.

How are Low Set Ears Diagnosed?

Detection of low set ears is primarily a visual diagnosis made using physical examinations. Sometimes, a prenatal ultrasound can also detect this feature. If low set ears, along with other unusual features, are identified, genetic testing or a comprehensive medical evaluation may be recommended to detect the presence of any accompanying syndromes, including Treacher Collins syndrome.

So, while the presence of low set ears may initially worry parents, it’s necessary to remember that they are a ‘clue’ that could guide a healthcare professional toward detecting more complex conditions. A multidisciplinary approach is often taken for infants with low set ears to ensure all aspects of their health and development are addressed. It’s also essential to focus on the overall wellbeing of the child and offer support to the family who may be navigating through an array of complex emotions and challenges.