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Famous People With Treacher Collins Syndrome
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
Normal: If the craniofacial abnormalities are addressed then the life expectancy can be otherwise normal. ...Read more
No: As is a genetic disorder due to dysfunction of a gene (ube3a) on chromosome 15. Patients have developmental delay, problems with movement/balance, happy/excitable personality & problems with speech. See: www.Angelman.Org. The children of some famous people have been diagnosed with as: sons of actor, colin farrell, author, ian rankin, baseball player, dave henderson, & hockey player, peter mcduffe. ...Read more
Aspirin & virus infx: Reyes generally occurs in children between 4 and 14 years old. It has been linked to the use of Aspirin or aspirin-containing medicines used during a viral infection (i.e., chickenpox; flu, etc.). It is not well understood but can be fatal. We see less of it since doctors have started advising against giving Aspirin to kids and teens, especially during virus infections. ...Read more
Noonan's Syndrome-1: Is from a mutation in a gene ;#40;ptpn11;#41; on the long arm of chromosome 12. Each child of a person with ns-1 has a 50% chance of having it. Features include wide-set ; down-slanting eyes, a broad forehead ; a webbed neck. Congenital heart disease ;#40;in 90%;#41;, spine deformities ; intellectual disability are seen. Other gene mutations with features similar to ns-1 can be detected on chromosomal microarray. ...Read more
Below: A disorder may refer to a disease or an abnornal condition affecting the body. A syndrome is the association of several clinically recognized signs, symptoms, or characteristics that occur together to alert healthcare providers of a condition. ...Read more
No: Down syndrome is not a recessive condition. It is caused by an extra chromosome #21. We normally have a pair (=two copies) of each chromosomes #1-22. Individuals with down syndrome have a third chromosome #21. Thus name "trisomy 21" as well. Here more about mechanism and heritability of down syndrome if you are interested: http://ghr.Nlm.Nih.Gov/condition/down-syndrome. ...Read moreSee 2 more doctor answers
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