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Bloom syndrome is characterized by short stature and a facial rash that develops shortly after first exposure to sun. This rash can make a butterfly-shaped patch of reddened skin on the cheeks. The rash can develop on other sun-exposed areas such as the backs of the hands. Other clinical features include a high-pitched voice; distinct facial features, such as a long, narrow face, micrognathism of the mandible, and prominent nose and ears; pigmentation changes of the skin including hypo- and hyper-pigmented areas and cafe-au-lait spots; telangiectasias (dilated blood vessels) which can appear on the skin but also in the eyes; moderate immune deficiency, characterized by deficiency in certain immunoglobulin classes, that apparently leads to recurrent pneumonia and ear infections; hypo-gonadism characerized by a failure to produce sperm, hence infertility in males, and premature cessation of menses (premature menopause), hence sub-fertility in females. However, several women with Bloom syndrome have had children. Complications of the disorder may include chronic lung problems, Diabetes, and learning disabilities. In a small number of persons, there is mental retardation. The most striking complication of the disorder is susceptibility to cancer.
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How many people have been diagnosed with cotard syndrome?
Cotard syndrome is a rare psychiatric condition where individuals believe they are dead or do not exist. There is limited data on the exact number of people diagnosed with Cotard syndrome worldwide, but it is considered to be very rare and only a few hundred cases have been reported in medical literature.
Why does an individual with Turners syndrome often NOT get diagnosed till adolescence?
Sometimes the person does not have obvious characteristics of Turner syndrome, so they do not get diagnosed as a child. When they become adolescent and do not go through puberty that is what leads the doctor to test the person for Turner syndrome.
How many people have been diagnosed with Freeman-Sheldon syndrome?
As of 1990, 65 patients had been reported in the literature, with no sex or ethnic preference notable. from http://en.wikipedia.org/wiki/Freeman-Sheldon_syndrome The population prevalence of Freeman-Sheldon syndrome (FSS) and number of cases diagnosed is unknown. The reason is partly that FSS really is a spectrum of related distal arthrogryposes. from http://clinmedsurgresone.blogspot.com/
What is post concussion syndrome?
Post concussion syndrome is a diagnosis given to someone who has been affected by a concussion. These people exhibit persistent problems due to the concussion even after they should have healed.
How is Apert syndrome diagnosed?
The characteristics of individuals with Aperts syndrome have the webbing of fingers and toes, or possibly, a cranial malformation, This webbing is caused by apoptosis, which is selective cell death, causing separation of the digits. With the head it is called cranialsynostosis. Some symptoms of cranialsynostosis is a high and prominent forehead with a flat posterior skull. Due to the premature closing of the coronal sutures, increased cranial pressure can develop as a result of deficient growth.They also have low set ears, shallow bony orbits and broadly spaced eyes.
How is Brown-Sequard syndrome diagnosed?
Brown-Sequard syndrome is diagnosed based on the patient's medical history and a physical examination
Has anybody been diagnosed with Tourette's syndrome but later found out they have Asperger's Syndrome?
Yes. There are people who have both Tourette's syndrome and Asperger's Syndrome. Depending on the severity of each, sometimes Tourette's syndrome will be diagnosed before Asperger's Syndrome. Both conditions have echolalia as a possible symptom, so if it is diagnosed as an element of Tourette's syndrome, it might not be considered as a symptom of another condition, which could delay diagnosis of Asperger's Syndrome. However, Asperger's Syndrome is diagnosed based on a number of symptoms, so a diagnosis of Tourette's syndrome would probably mask only a mild case of Asperger's Syndrome. Before Asperger's Syndrome became a recognized condition, it was diagnosed as other conditions. It is possible that one of those misdiagnoses could have been Tourette's syndrome.
What syndrome does Jeremy twitch stenberg have?
Tourette's syndrome, which he was diagnosed with at the age of five
How is turner syndrome diagnosed?
By doing a genetic bloodtest.
Does Temple Grandin have autism or is it Asperger's Syndrome?
When she was a child, Temple Grandin was diagnosed as having autism. If she were being diagnosed today, it would probably be labeled Asperger's Syndrome.
Can a girl with a karyotype of 46XX still be diagnosed with Turners?
No, individuals with Turner syndrome typically have a karyotype of 45X. If a girl has a karyotype of 46XX, she would not be diagnosed with Turner syndrome.
How are patients diagnosed with Martin syndrome?
Patients with Martin Syndrome er usually called Martin
What is the prognosis for Wiskott-Adrich syndrome?
The prognosis for males diagnosed with Wiskott-Adrich syndrome is poor.
What is Sojourn's syndrome?
My daughter was diagnosed with sojourn's syndrome several years ago when her salivary glands would continually become inflammed and blocked. She has also been diagnosed with SLE Lupus.
When was Rosa Parks diagnosed with demincia?
when did Rosa parks get diagnosed with progressive dementia
How do you get Aspergers Syndrome?
Usually you are born and diagnosed with it
How is Zellweger syndrome diagnosed?
Zellweger syndrome is diagnosed by measuring metabolic compounds in blood samples from patients. Various fatty acids, plasmalogens, pipecolic acid, and bile acid intermediates are usually studied
