Treacher collins syndrome is characterized by the inappropriate development of bones and face tissues. Most affected individuals have underdeveloped facial bones, particularly the cheek bones, jaw and chin (micrognathia). Some of the affected are also born with an opening in the roof of the mouth called a cleft palate. The disorder can be severe, as it can sometimes restrict an affected infant's airway to cause life-threatening respiratory problems.
It is a rare condition which affects an estimated 1 in 50,000 people. People inherit Treacher Collins syndrome because of the mutations in the TCOF1 or POLR1D gene, it is considered an autosomal dominant condition.
Those with Treacher Collins syndrome have eyes that slant downward, sparse eyelashes, and a notch in the lower eyelids called an eyelid coloboma. Eye abnormalities that can lead to vision loss are also associated with the disorder. Unusually formed ears, small and sometimes absent ears is another characteristic of the disorder. Some individuals have defects in the middle ear and may suffer from hearing problem (including hearing loss).
Treatment for Treacher Collins syndrome depends on your child's age and how much they are affected. Your doctors will recommend treatment based on your child's needs. Because of several problems that a child might have, experts have to look into each medical problem differently and sometimes may need a number of specialists.
Read more articles on Treacher Collins Syndrome.
Though all possible measures have been taken to ensure accuracy, reliability, timeliness and authenticity of the information; Onlymyhealth assumes no liability for the same. Using any information of this website is at the viewers’ risk. Please be informed that we are not responsible for advice/tips given by any third party in form of comments on article pages . If you have or suspect having any medical condition, kindly contact your professional health care provider.