Fact 3: Physical Symptoms of Treacher Collins Syndrome
The most noticeable physical symptoms of TCS involve the development of facial structures. Individuals typically exhibit underdeveloped cheekbones and a small lower jaw, leading to a distinctive facial appearance. These features vary from mild to severe and are often the first indicators leading to a diagnosis of TCS. The impact of these physical traits extends beyond aesthetics, affecting functional abilities like eating and speaking.
Ear abnormalities are a common symptom of TCS, ranging from minor anomalies to the absence of ears. These malformations can lead to varying degrees of hearing loss, which can significantly impact communication and development. For many with TCS, hearing aids or reconstructive surgeries are necessary to improve hearing capabilities, highlighting the importance of early detection and intervention.
Eye-related symptoms in TCS include colobomas (notches in the lower eyelids), a downward slant of the eyes, and potentially vision problems. These issues can affect the appearance and function of the eyes, necessitating monitoring and, in some cases, surgical intervention to address these abnormalities and prevent vision impairment.
The underdevelopment of facial bones, particularly the jaw, can lead to respiratory problems in individuals with TCS. These challenges are often most significant in infancy and early childhood, requiring careful monitoring and sometimes medical intervention to ensure adequate airway function.
Due to the underdevelopment of the jaw, many individuals with TCS experience dental and oral health issues. These can include malocclusion (misalignment of teeth), difficulties with chewing and speech, and a higher risk of dental decay. Addressing these oral health challenges often requires a multidisciplinary approach, involving orthodontics, speech therapy, and regular dental care. (3)
