Doctor insights on:
Treacher Collins Syndrome In Children
TC Syndrome: TCS is a genetic craniofacial disorder. Complete description here: http://en.wikipedia.org/wiki/Treacher_Collins_syndrome See oral surgeon or craniofacial surgeon for surgical corrections procedures. Requires years of management by surgeon, speech therapist, pediatrician, orthodontist. ...Read more
Inherited Disorder: Treacher Collins Syndrome, or mandibulofacial dysostosis is an inherited craniofacial disorder with a distinct set of characteristics. These characteristics include hypoplasia (underdevelopment) of the facial bones, clefting of the palate, ear anomalies and eye problems. While there is no "cure," there are craniofacial teams that can help patients surgically with the syndrome. ...Read more
Treacher collins: Is a congenital disorder characterized by craniofacial deformities, such as absent cheekbones. Treacher collins syndrome is found in about 1 in 50, 000 births. The typical physical features include downward slanting eyes, micrognathia (a small jaw), conductive hearing loss, underdeveloped zygoma, drooping part of the lateral lower eyelids, and malformed or absence of ears. ...Read moreSee 1 more doctor answer
No: Tcs is an autosomal dominant disorder . The primary identified mutation is in the tcof1 gene (97%) which is located on chromosome 5q32-q33.1. There are at least 2 other gene defects that are responsible for some cases. Since these defects are in the main dna, it is not mitochondrial in origin. ...Read more
Absolutely!: Results, both functional and esthetic will vary depending on the severity of the defects. Some treacher-collins patients do have some developmental disabilities as well as hearing and speech problems. Your best bet for advice for the long-term is being a patient in a comprehensive, multi-disciplinary cleft and craniofacial clinic. ...Read more
What is the chance that hearing loss is caused by treacher collins syndrome? What are the usual symptoms?
Yes: Like any syndrome, treacher collins can have a number of different features associated with it. Cleft palate as well as other distinguishing features: small zygomatic bones and mandibles, external ear abnormalities, coloboma (notching) of the lower eyelid, absence of the lower eyelashes, and preauricular hair displacement onto the cheeks. About 40%-50% of individuals have conductive hearing loss. ...Read moreSee 2 more doctor answers
Maybe: This is a complicated condition and many children will have developmental/intellectual delays. Best if you make an appointment with a Genetic Specialist who can guide you through the diagnosis and possible outcomes. Here's an article that you may find helpful. http://ghr.nlm.nih.gov/condition/jacobsen-syndrome ...Read more
No good data: This is not quite rare, but also not common. It is more often reported in children but can occur at any age. It is not a mental illness, but a physical perceptual distortion and is usually not part of a dangerous condition. It may be associated w/ migraines or tle and a neurologist might help. Try not to worry about 'craziness' - it is not that. Wish i could offer #s, but i can't. ...Read moreSee 1 more doctor answer
Very rare: This syndrome, where objects or the person's own body appear larger or smaller than normal, is very rare. Some sources say only about 300 adults & children in the us have this. Another source said 9% of teens had transient experiences of micropsia. It can be a migraine equivalent, & can also appear in conditions like seizures, CNS infections, brain tumors, drug use, macular degeneration, etc. ...Read more
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