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What are symptoms of treacher Collins syndrome?
Some symptoms of Treacher Collins syndrome include a small lower jaw, drooping of the lower eyelids, downward slanting eyes, gradual hearing loss and deformed ears.
What are some syndromes a baby can be born with?
Down Syndrome, Autism, Treacher Collins syndrome, PKU, Fetal Alcohol Syndrome, etc.
When was Treacher Collins syndrome identified?
Genetic mandibulofacial dysostosis was first described by George Andreas Berry in 1889 and formally presented to the London medical community in 1900 by Edward Treacher Collins. This malady has a several different manifestations and is known by a variety of names. In the USA and Britain, the names Treacher Collins syndrome, Berry's Syndrome, and Berry-Treacher Collins syndrome are used. In Europe it is more likely to be called Franceschetti-Klein syndrome. I actually have the treacher Collins syndrome, its not all that bad. I don't look terrible, i actually look ok compared to some of the people that have it with me. Im not some moron that hates people with syndromes, theyre not any different. But i hate myself ATM, i don't think i will ever find anybody that will ever think im pretty. People keep telling me looks arent everything, but when you have them, its a lil too east to say.
How can treacher Collins syndrome be passed on?
Treacher Collins syndrome is primarily caused by mutations in the TCOF1 gene, which can be inherited in an autosomal dominant manner. This means that an affected individual has a 50% chance of passing the mutated gene to each of their children. In some cases, the syndrome can also result from new mutations that occur spontaneously, meaning it may not always be inherited from a parent. If a child inherits the mutated gene, they may exhibit varying degrees of the syndrome's characteristic features.
What are some causes of deafness?
# Meningitis # Prebycusis # Otis Media # Tinnitus # Pematurity # Cytomegaloirus # treacher collinssyndrome # Waardenburg syndrome
What are some symptoms for Treachers Collins syndrome?
Streacher Collins syndrome is a condition that affects the development of bones and other tissues of the face. The signs and symptoms of this disorder vary greatly, ranging from almost unnoticeable to severe. Most affected individuals have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). Some people with this condition are also born with an opening in the roof of the mouth called a cleft palate. Some affected individuals have additional eye abnormalities that can lead to vision loss. This condition is also characterized by absent, small, or unusually formed ears. Hearing loss occurs in about half of all affected individuals; hearing loss is caused by defects of the three small bones in the middle ear, which transmit sound, or by underdevelopment of the ear canal. People with Treacher Collins syndrome usually have normal intelligence. ~National Science Library
What can be some symptoms for Marfan's syndrome?
flat feet an sinked chest are some symptomes of marfan syndrome
What are the symptoms of cubital tunnel syndrome?
There are many symptoms that can come with having cubital tunnel syndrome. Some of these symptoms are numbness and tingling in hand or arm and weakness in your hand.
What are some signs and symptoms for the HELLP syndrome?
The "HELLP" syndrome is a series of symptoms that occurs in pregnant women and refers to "hemolysis, elevated liver enzymes and low platelet count". Some signs and symptoms of the HELLP syndrome are hypertension, nausea and heartburn.
What are the symptoms of Myelodysplastic Syndrome MDS?
Signs and symptoms of Myelodysplatic Syndrome are anemia, increased susceptibility to infection, increased bleeding and bruising. Some people show no symptoms at all.
What are the symptoms of Jacob's syndrome?
some symptoms of the Jacobs syndrome include swollen joints, joint stiffness, camptodactyly, arthritis, immaturity, and inflamed pericardium.
What are the symptoms of Melas Syndrome?
Some of the most common symptoms of MELAS Syndrome are brain dysfunction with seizures and headaches, abnormal thinking and temporary local paralysis.
