Treacher Collins syndrome: A comprehensive review on clinical features, diagnosis, and management

Abstract

Treacher Collins syndrome is a rare genetic disorder that affects the bone development, resulting in significant craniofacial deformities. The syndrome is characterized by cleft palate, micrognathia, low-set or small ears, and sparse eyelashes. These characteristic symptoms guide for the diagnosis. However, the manifestations may resemble other diseases, which makes the clinical diagnosis difficult. Although the majority of cases are clearly diagnosed at birth, genetic counseling and imaging scans, such as x-ray or computed tomography, may help to confirm the diagnosis. The severity of the disease varies among patients, ranging from mild undiagnosed cases to severe marked deformities. Nevertheless, airway difficulty at birth represents a significant challenge for anesthesiologists since these patients have abnormal development of zygomatic arch, which may result in airway complications. Therefore, proper management requires multidisciplinary departments, including pediatrics, neurosurgery, otolaryngology, audiology, plastic surgery, and genetics. Hence, it can be inherited in an autosomal dominant manner; genetic counseling is also needed.

Keywords: Diagnosis; Treacher; features; multidisciplinary; pediatrics; syndrome.

Figure 1

TCOF1 mutations associated with TCS

Figure 2

Approach toward TCS from the scope of genetic mutation

Figure 3

Differential diagnosis of TCS

Figure 4

Management strategies