Treacher Collins syndrome is an inherited disorder that affects facial bone and soft tissue development, causing distorted facial features, hearing loss, and airway constriction. It is caused by a mutation of a specific gene and can be diagnosed before birth through routine ultrasound. Treatment includes lifelong reconstructive surgical procedures.
Treacher Collins syndrome is an inherited disorder that causes a child to be born with distorted facial features. The condition affects bone and soft tissue development in the skull and face and can lead to abnormally shaped ears, cheeks, eyelids, and jaws. In severe cases, Treacher Collins syndrome can impair hearing and cause airway constriction. Most people with the disorder need to undergo lifelong reconstructive surgical procedures to improve their appearance and prevent health problems.
Known in medical circles as mandibulofacial dysostosis, Treacher Collins syndrome was first described in 1900 by the physician after whom it is named. The disorder results from a mutation of a specific gene that controls the development of facial bones and cartilage tissue in an embryo. Treacher Collins syndrome is considered an autosomal dominant disorder, which means a child will inherit it if one of their parents carries the mutated gene. About half of reported cases are the result of new mutations, rather than familial inheritance.
A child born with Treacher Collins syndrome is likely to have abnormally shaped ears and some or all of the cartilage that makes up the outer ear may be missing. The cheekbones may be lower than normal, giving the eyes a droopy look. Most babies also have very small mouths and lower jaws. Facial deformities can cause a variety of medical problems, including hearing loss, vision problems, and difficulty speaking, eating, and breathing.
An obstetrician is usually able to diagnose Treacher Collins syndrome before a baby is born through routine ultrasound. If the deformities aren’t evident, the disorder may not be diagnosed until an exam after birth. When a doctor notices signs of Treacher Collins syndrome, she usually does a computed tomography scan of the baby’s head to look for malformations. If a baby is born with a narrowed airway, doctors may administer emergency surgical treatment to insert breathing and feeding tubes. Also, a child who is hearing impaired is usually fitted with hearing aids immediately.
Doctors typically decide to wait until a patient is older before considering further treatment. By age five, enough cartilage tissue has developed around the ribs for the surgeon to graft pieces of it onto the deformed ears. Bones can also be grafted to reform the jaws and cheeks, although surgeons typically don’t attempt such a procedure until the patient is in their early twenties. An individual may need to receive multiple bone grafts and plastic surgery over their lifetime to completely correct facial features.
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