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Doctor insights on: How Is Treacher Collins Syndrome Diagnosed

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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. Julie Abbott
8 doctors shared insights

Treacher Collins Syndrome (Definition)

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


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How is Alstrom syndrome diagnosed?

How is Alstrom syndrome diagnosed?

Alstrom syndrome: Usually diagnosed clinically due to sparsity of labs that offer genetic testing for the condition. ...Read more

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How is Stockholm syndrome diagnosed?

Stockholm: By initially noticing the victim being sympathetic toward his/her captors, AKA identification with the aggressor. ...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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How is asperger's syndrome diagnosed?

How is asperger's syndrome diagnosed?

Clinically: Asperger syndrome, like autism, is diagnosed by clinical observation and feedback from family and teachers. There is no link to vaccines and parenting style does not cause asperger or autism. Look for behavioral aspects; a strange fascination with mundane objects, stereotyped or ritualistic movements, or a lack of social interaction. ...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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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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How is Tietze syndrome diagnosed?

How is Tietze syndrome diagnosed?

Clinical diagnosis: Based on your reported symptoms(history) and your examination. Tietze's syndrome is chest wall pain at the costochondral(bone-cartilage junctions of that front chest/sternum) with associated swelling at the joints too. Costochondritis lacks the joint swelling. Sometimes inflammatory markers like an ESR/CRP are checked as it tends to be normal in costochondritis and elevated in Tietze's. ...Read more

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How is zollinger-ellison syndrome diagnosed?

How is zollinger-ellison syndrome diagnosed?

ZE: This is diagnosed by performing a blood test to look for high levels of gastrin (the hormone secreted by gastrinomas). Your doctor may also ask to perform tests to measure how much acid your stomach is producing. ...Read more

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How is reiter's syndrome diagnosed?

How is reiter's syndrome diagnosed?

Hx and the B27 : These types of reactive arthritic disorders can be suggested by a typical history and confirmed by a lab test for the presence of the hla-b27 antigen. The use of reiter's syndrome should be discouraged because hans reiter was one of the doctors which conducted horrendous experiments on nazi concentration camp inmates. ...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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How is palliser killian syndrome treated?

How is palliser killian syndrome treated?

Medically and surgic: It is a chromosomal disorder which results from an extra anomalous chromosome. Sometimes it can be detected prenatally by ultrasound. There are specific and varied physical features that identify the syndrome. ...Read more

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How is Asherman's Syndrome diagnosed?

How is Asherman's Syndrome diagnosed?

Asherman's Syndrome: Intrauterine or intracervical adhesions or scar tissue best diagnosed by hysteroscopy (direct visualisation of the uterus or hysterosalpingogram. ...Read more

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How is asperger's syndrome diagnosed in humans?

How is asperger's syndrome diagnosed in humans?

Questionaires: Mainly based on scoring answers on standardized questionnaires focused on asperger's symptoms. ...Read more

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How is compartment syndrome diagnosed in kids?

How is compartment syndrome diagnosed in kids?

Same as adults: History of injury, symptoms, clinical exam and intracompartment pressure measurements. This is the same for children and adults. ...Read more

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How is the ganser syndrome diagnosed?

How is the ganser syndrome diagnosed?

Difficult/rule out: Ganser syndrome is a type of dissociative disorder in which individuals give "nonsense" answer to questiosn, seem disoriented and confused, and may describe hallucinations or delusions. The trouble is that none of these symptoms are objectively verifiable, so they are easily faked. Fortunately, the syndrome is rare. Diagnosis relies on observation and consistency of presentation.Over time. ...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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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