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Doctor insights on: Famous People With Treacher Collins Syndrome

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What is Treacher Collins Syndrome?

What is 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

Dr. Amanda Itzkoff
8 doctors shared insights

Treacher Collins Syndrome (Definition)

A congenital disorder characterized by craniofacial deformities, ...Read more


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What is treacher collins syndrome? Is there a cure?

What is treacher collins syndrome? Is there a cure?

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

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What is the definition or description of: treacher collins syndrome?

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 more

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What is the life expectancy for someone with Treacher Collins Syndrome?

What is the life expectancy for someone with Treacher Collins Syndrome?

Usually normal: The life expectancy of a person with Treacher Collins Syndrome is normal. The exception is if there are significant jaw malformations which can affect breathing. ...Read more

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Is treacher collins syndrome a mitochondrial disorder?

Is treacher collins syndrome a mitochondrial disorder?

No: Treacher collins syndrome is an autosomal dominant mutation of a gene that codes for a nucleolar phosphoprotein.Researchers cite chromasome 5 as the predominant location for this defect.About 60% of cases are thought to represent new mutations. ...Read more

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Can anyone tell me is treacher collins syndrome a mitochondrial disorder/disease?

Can anyone tell me is treacher collins syndrome a mitochondrial disorder/disease?

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

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Can people who are born with treacher collins syndrome, after surgeries, end up ok?

Can people who are born with treacher collins syndrome, after surgeries, end up ok?

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

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Is treacher collins syndrome a genetic disease?

Is treacher collins syndrome a genetic disease?

Yes: In some patients it is a new mutation, while in others it is passed down from a parent. ...Read more

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What is the chance that hearing loss is caused by treacher collins syndrome? What are the usual symptoms?

What is the chance that hearing loss is caused by treacher collins syndrome? What are the usual symptoms?

50 % have it.: 50% of treacher collins patients have hearing loss. Usually due to malformations of the external ear or ear canal. Can be improved with reconstructive surgery. See a facial plastic surgeon. ...Read more

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What is treacher collins syndrome? Can it cause a cleft palate?

What is treacher collins syndrome? Can it cause a cleft palate?

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 more

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What is treacher collins symptoms?

What is treacher collins symptoms?

Many signs: Patients have an under-de eloped lower jaw and chin, down-slanting eyes, may have ear deformities, poor or absent hearing, nasal deformities and under-developed cheekbones. There are other findings, depending on the severity of the syndrome. ...Read more

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What is the life expectancy for kids who have treachers collins syndrome?

What is the life expectancy for kids who have treachers collins syndrome?

Normal: If the craniofacial abnormalities are addressed then the life expectancy can be otherwise normal. ...Read more

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Is there a life expectancy for Treachery Collins Syndrome?

Is there a life expectancy for Treachery Collins Syndrome?

Normal: Why do you ask? If a family member is affected, the parents should have received genetics counseling: If not, they should arrange for it. See TreacherCollins.org ...Read more

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Did any famous people have angelman syndrome?

Did any famous people have angelman syndrome?

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

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How do people get reye's syndrome?

How do people get reye's syndrome?

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

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Can you tell me about noonans syndrome?

Can you tell me about noonans syndrome?

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

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How do a disorder and a syndrome differ?

How do a disorder and a syndrome differ?

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

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Is down's syndrome a recessive condition?

Is down's syndrome a recessive condition?

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 more

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How to get tested for klienfelters syndrome?

How to get tested for klienfelters syndrome?

ConsultYourDoctor: You need a Physical Exam by your doctor and if physical Exam supports the Diagnosis of Klienfelters Syndrome,it can be confirmed with your Chromosome Analysis Chromosomes will show XXY pattern with an extra Y cromosome ...Read more