The deformities may lead to problems in family and social relationships. Problems with the teeth and dry eyes can lead to infections. This condition can make it hard to breathe, sleep, eat, and hear. TCS may also cause a delay in motor and speech development. Hearing loss may occur due to abnormal development of the facial bones and incomplete or abnormal development of the ears. An opening in the roof of the mouth called a cleft palate, with or without a cleft lip.Hair displacement, in which hair grows in front of the ears and to the lateral cheekbones.Ears, which may include absent, small, malformed, or rotated ears.Lower eyelids, which may include notching and sparse or absent eyelashes.Eyes, including lazy eye, an inability to focus, and vision loss.Signs and symptoms of TCS include some parts of the body developing in abnormally or incompletely. While some individuals may experience very mild symptoms, others have extremely severe symptoms that may have serious consequences, such as life-threatening airway problems. Signs and symptoms vary from almost unnoticeable face changes to severe facial and ear alterations, cleft palate and restricted airway. Treacher Collins syndrome (TCS) affects approximately 1 in 50,000 live births. A child may have features of “Pierre Robin sequence,” in which the tongue is located farther back in the throat than normal (glossoptosis), with or without an incomplete cleft palate of the mouth and airway obstruction.Other abnormalities may make breathing and feeding difficult for a child due to the narrowed obstruction of the nasal airways.Some individuals can be affected severely, and they may develop life-threatening breathing problems (infantile apnea).A child with TCS may have sleep apnea and/or conductive hearing loss the loss of ear function may require a resource to provide child hearing aids.Other names for this syndrome are mandibulofacial dysostosis, Treacher Collins-Franceschetti syndrome, Franceschetti-Zwahlen-Klein syndrome, and zygoauromandibular dysplasia.
The condition is caused by an abnormal gene that affects how the face forms. There is no cure, but surgery can make a big difference. Babies who have it are born with deformed ears, eyelids, cheekbones, and jawbones. Treacher Collins syndrome (TCS) is a rare condition.
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