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he has a small chin
his bones are developed wrong
He has Progeria
A genetic disorder is based on an unusual characteristic in a person's DNA. This can range from too many chromosomes, to not enough, to them just not completely dividing. Most of the time the result of this causes much grief in families.
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Russell-Silver Syndrome
he has a small chin
Osteogenesis Imperfecta
his bones are developed wrong
Progeria
He has Progeria
Russell-Silver Syndrome
An estimation of seven to ten percent of patients with Russell-Silver Syndrome have a defect in chromosome number seven. UPD (uniparental disomy) In alot of people with this disorder's families have no history of it, and alot of times a cause is never found. It has been found to be autosomal recessive. Before you're even born, you get delays in your growth. Sometimes one side of your body grows much faster than the other. the characteristics of your face may turn out unusual. Your face looks like a triangle and your chin is unusually small. Immature bone growth developes even after birth. You may even get coffee colored patches all over your body. Thier is no definite cure. Physical therapy and special education can help after the patient has been diagnosed. the sooner you know you have the disorder, the better. It effects new borns, up to your entire life. Some say it effects one in every three-thousand, some say it is one in every hundred thousand.
what age group is likely to get this disease?
Which chromosome does this disease effect?
Is their a cure?
How many people have been diagnosed with this disease?
Osteogenesis Imperfecta
This disease causes extremely fragile bones. Average patients may have blue sclera, early hearing loss, and multiple bone fractures. More Severe patients may have Kyphosis (stiffness of the spine) or even Scoliosis. Thier is no definite cure, but specific therapies that can reduce the pain of living with Ol. Bisphosphonates are drugs used to treat Osteoporosis, but help Ol greatly. It is usually caused by a defect in the gene that makes type one collagen (an important bone building block) It is an autosomal dominant disease. It occurs with an equal amount among males and females of all races and ages. 20-50,000 people in America have been affected with Ol.
Are their specific treatments that may help?
What is the main sign of the disease?
Is their a definite cure
What is a short version of Osteogenesis?
Progeria
This is an extremely genetic disease. This disease makes your body accelerate much faster than it is supposed to. This means your body appears as if you are getting much older much faster. About eight times faster. They are born wit hit and usually die around age 13 from either stroke or heart attack. Their is no cure. This is a dominant disease that is a sporatic mutation. It effects one in eight million people. It can be discribed as dwarfism, small face and jaw compared to your head, delayed tooth formation, stiff joints, wrinkled or aged skin, and cardiovascular problems. Children of all races have been effected, but 97% are white males. Most cases have been found from the arise from the substitution of only one base pair among the 20,000 DNA base pairs that make up the LMNA gene.
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