Treacher Collins syndrome

Treacher Collins syndrome, also known as mandibulofacial dysostosis, is an autosomal dominant inherited disorder that affects the bones and other tissues of the face, leading to deformities and a characteristic facial appearance. The incidence in the population is approximately 1:50,000.

Intelligence is usually unaffected in most patients. It is a rare genetic disorder, but in about 60% of cases the syndrome results from a new mutation caused by external factors (such as drugs, radiation, and other environmental influences on the fetus). It affects females more often than males, and the probability of transmission to offspring is up to 50%.

Diagnosis:
Diagnosis is based on typical facial morphology together with hearing impairment and breathing difficulties. Genetic testing is important to confirm the presence of a mutation.

Treatment:
There is no cure for Treacher Collins syndrome; treatment focuses on correcting its manifestations. This includes plastic surgery to improve appearance, treatment of hearing loss with hearing aids, management of breathing difficulties, orthodontic or surgical correction of jaw abnormalities, speech therapy for cleft-related issues, and other supportive interventions.

• underdeveloped facial bones causing deformities, especially the cheekbones
• downward slanting eyes
• underdeveloped lower eyelids with tendency to eye dryness
• partially or completely underdeveloped cheekbones
• sunken temporal region
• prominent nose
• microtia (malformed ears) or complete absence of ears
• congenital absence/atresia of the external auditory canal and malformations of the middle ear ossicles, leading to varying degrees of hearing loss
• cleft anomalies of variable severity and location (lip and/or jaw)
• micrognathia (small lower jaw compared to upper jaw, giving a receding chin appearance)
• open bite
• misaligned teeth
• hairline extending forward in the form of sideburn-like growth in both sexes
• breathing difficulties
• swallowing difficulties due to cleft defects
• recurrent eye infections