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How Is Treacher Collins Syndrome Diagnosed
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
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 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
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
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 moreSee 1 more doctor answer
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
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
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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