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Doctor insights on: Who Discovered 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. Steven Griggs
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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Who discovered patau syndrome?

Who discovered patau syndrome?

T. Bartholin: Patau syndrome which is a duplication of chromosome 13 was originally described by thomas bartholin in 1657. ...Read more

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When was crouzonodermoskeletal syndrome discovered?

When was crouzonodermoskeletal syndrome discovered?

Crouzon syndrome : Louis edouard octave crouzon (1874–1938) published “une nouvelle famille atteinte de dysostose cranio-faciale héréditaire” in archives de médecine des enfants, paris, in 1915. So I am guessing that he discovered crouzon syndrome prior to that publication. ...Read more

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What is crouzonodermoskeletal syndrome? When was it discovered?

Crouzonodermoskeleta: Louis Edouard Octave Crouzon (1874–1938) published “une nouvelle famille atteinte de dysostose cranio-faciale héréditaire” in archives de médecine DES enfants, Paris, in 1915. So I am guessing that he discovered crouzon syndrome prior to that publication. One healthtap physician indicated 1912. ...Read more

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Which person discovered crouzonodermoskeletal syndrome (crouzon syndrome)?

Crouzon: Crouzon craniofacial dysostosis was described by crouzon in 1912. The genetic cause was not identified until 1994 and the credit goes to a number of different geneticists - reardon and preston independently helped narrow the genetic inheritance to the fgfr2 gene. ...Read more

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What is hurler syndrome? Who discovered it?

Hurler syndrome: Hurler syndrome = mucopolysaccharidosis type I . It was named after Gertrud Hurler. ...Read more

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How is edwards syndrome discovered?

How is edwards syndrome discovered?

Edwards syndrome: This is another name for trisomy 18. Trisomy is a big word that means three copies. So trisomy 18 has three copies of the 18th chromosome. It can be discovered by an amniocentesis or cvs, and recently even a blood test. ...Read more