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Doctor insights on: History Of Treacher Collins Syndrome

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Dr. Corey Clay
8 doctors shared insights

Treacher Collins Syndrome (Definition)

A congenital disorder characterized by craniofacial deformities, ...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 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

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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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Is there any doctor with experience of seeing patients with Cowden's syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN hamartoma tumour syndrome?

Is there any doctor with experience of seeing patients with Cowden's syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN hamartoma tumour syndrome?

Cowden Syndrome: http://ghr.nlm.nih.gov/condition/bannayan-riley-ruvalcaba-syndrome http://ghr.nlm.nih.gov/condition/cowden-syndrome http://rarediseases.info.nih.gov/gard/6202/cowden-syndrome/resources/8 Those are fairly rare disease Perhaps the above links could assist you. Seems like University of Iowa does have expertise. ...Read more

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What are frey syndrome, horner's syndrome and shy-drager syndrome?

What are frey syndrome, horner's syndrome and shy-drager syndrome?

What do they have in: They all have abnormalities of autonomics and other nervous sytem problems. ...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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Common symptoms of Marfan's syndrome?

Marfan Syndrome: There is significant variability in how marfan syndrome presents in people. Possibly symptoms include: tall height; long arms, legs, fingers & toes, heart murmur, curved spine, flat feet, nearsightedness & deformity of the breast bone. ...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

Dr. Alan Ali Dr. Ali
1 doctor agreed:
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What are common physical features of people with digeorge syndrome?

Dr. Alan Ali Dr. Ali
1 doctor agreed:
What are common physical features of people with digeorge syndrome?

Di george syndrome: Cleft palate, hearing loss, skeletal abnormalities, seizures, emotional problems. ...Read more

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What culture or race is associated with turner's syndrome?

What culture or race is associated with turner's syndrome?

Equal opportunity Dx: Turner syndrome( xo sex chromasomes) has been reported across all races, cultures and socio-economic groups.After conception, many are lost early in pregnancy. The DX may be suspected prenatally thru screening or evident by physical features seen at birth. Many go unrecognized until adolescence when short stature & lack of development is evident.With rx they can live quite well. ...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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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

Dr. Alan Ali Dr. Ali
2 doctors agreed:
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What is the difference between Angelman syndrome and Williams syndrome?

Dr. Alan Ali Dr. Ali
2 doctors agreed:
What is the difference between Angelman syndrome and Williams syndrome?

Williams/Angelman: Williams show distinct facial features, Cardiovascular abnormalities, Hypercalcemia & Hyperactivity. Angelman show severe intellectual impairments, Seizures, Ataxia, Speech impairment. Both are rare genetic diseases involving Chromosomal abnormalities (Chromosome 15 in Angelman, 7 in Williams). ...Read more

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What is downs syndrome, fetal alcohol syndrome, high functioning autism, asperger's syndrome and what are the causes?

What is downs syndrome, fetal alcohol syndrome, high functioning autism, asperger's syndrome and what are the causes?

See below: Down's syndrome. A genetic defect that seems to occur with mother's who are older. Fetal alcohol syndrome: this is caused by excessive intake of alcohol during the pregnancy, especially the early part of pregnancy when the nervous system is developing. As to aspergers, no one is quite sure at this time. ...Read more

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What causes turner syndrome, noonan syndrome, & the rare klippel-fell syndrome? What happens during fetal development that causes these conditions?

What causes turner syndrome, noonan syndrome, & the rare klippel-fell syndrome? What happens during fetal development that causes these conditions?

A genetic accident: During formation of the egg or sperm can leave out an x chromosome in either one. A fetus whose genetic make-up includes the germ cell missing a chr. X has turner syndrome. One of 8 different genetic mutations is passed on to a fetus by 1 parent or happens spontaneously to cause noonan syndrome. 2 related genetic mutations are passed on to the fetus by 1 parent to cause klippel-feil syndrome. ...Read more

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What are the differences between Marfan syndrome and ehler-danlos syndrome?

What are the differences between Marfan syndrome and ehler-danlos syndrome?

Some similarities: Ehler-danlos syndrome is a group of disorders, caused by a different mutation than the one that causes marfan syndrome. Some types of ehler-danlos syndrome also have rupture of the aorta as a potential problem. Ehler-danlos patients can have some skeletal features similar to those of marfan patients. ...Read more

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