Rare Genetic Syndrome That Impacts Facial Deformities

In everyday life, we often find someone with an abnormality in the shape of a face or limb that has been suffered since birth. The terms genetic disorders and syndromes are often mentioned to be the cause of the condition. One of the syndromes found in the ear, nose and throat area is Treacher Collins Syndrome. This syndrome is a genetic disorder that can be inherited in an autosomal dominant or recessive manner. Medically, Treacher Collins syndrome is known as mandibulofacial dysostosis or Franceschetti syndrome. These genetic disorders and syndromes occur due to mutations of the TCOF1, POLR1D and POLR1C genes with varying phenotypic expressions. Treacher Collins syndrome is also called Berry syndrome, first discovered by Thomson in 1846 Thomson followed by Toynbee in 1847 and Berry in 1889. The incidence of Treacher Collins syndrome in the world is estimated to be very rare, namely 1 in 40,000-50,000 live births. There were no differences in the incidence rates for sex or race. In the majority of cases, the diagnosis of Treacher Collins syndrome is made at birth due to negligence of a characteristic facial shape. Clinical symptoms that are often encountered in patients with Treacher Collins syndrome vary widely, but are generally found in the form of lids of the eyelids or known as antimongoloid palpebral fissures, other disorders in the form of inferior palpebral anomalies and colobomas in the outer third or sparse eyelashes or both. Deformities of the face and jaw, known in medical terms as hypoplasia of the zygoma and mandible. The resulting abnormality often affects both sides of the face which are equally symmetrical with a degree of malformation that is relatively stable from birth and does not progressively develop with age. To find out the diagnosis of Treacher Collins syndrome before pregnancy, genetic counseling is needed to help families in making clinical decisions so that the incidence or incidence of Treacher Collins syndrome can be reduced. Therapy in the form of rehabilitation of the facial area or known as craniofacial in Treacher Collins syndrome is tailored to the needs of each individual. This action is carried out by a team consisting of ENT, ophthalmologists, pediatrics, craniofacial surgery, teeth and mouth, physiotherapy and psychology. In Treacher Collins syndrome, a severe degree of monitoring is carried out on airway patency and nutritional compliance. Bone reconstruction is performed first before soft tissue reconstruction is performed. Early treatment of hearing loss should be prioritized to prevent speech and language disorders.