Subscribe to:
Post Comments (Atom)
skip to main |
skip to sidebar
Little baby with achondroplasia
Baby who suffers with down syndrome
Genetic disorder is a disease or disorder that is inherited (tending to occur among members of a family usually by heredity) genetically.
Achondroplasia
Little baby with achondroplasia
Down Syndrome
Baby who suffers with down syndrome
Canavan Disease
About Me
- Summer
- Hello! My name is Summer and I go to Peachtree Ridge High School.
Achondroplasia
Achondroplasia is a cartilage disease that caused by autosomal dominant mutation (single mutation on chromosome).
In Achondroplasia, bone is disturbed. An average adult height of 131 cm (4 feet 3.8 inches) for males and 123 cm (4 feet 0.6 inches) for females.
The disorder appears in approximately one in every 10,000 births. Achondroplasia is usually diagnosed at birth (characteristic appearance of the newborn).
Sadly, there is no treatment for Achondroplasia yet.
In Achondroplasia, bone is disturbed. An average adult height of 131 cm (4 feet 3.8 inches) for males and 123 cm (4 feet 0.6 inches) for females.
The disorder appears in approximately one in every 10,000 births. Achondroplasia is usually diagnosed at birth (characteristic appearance of the newborn).
Sadly, there is no treatment for Achondroplasia yet.
Can female get achondroplasia?
Is there cure for the Achondroplasia?
Down Syndrome
Down Syndrome is a disease that named after John Langdon Down. Down syndrome is a chromosomal disorder caused by an error in cell division that results in the presence of an additional third chromosome 21 or "trisomy 21."
Some one who suffers from down syndrome is a person who is born with a wide flat face, sloping eyes and a mental ability that is below average.
There are no cure for down syndrome but we can control symptoms and manage any resulting medical conditions by regular checkups and screenings, medications, and surgery. Counseling can also give treatment for those who need help in coping with the emotional and practical aspects of Down syndrome.
Some one who suffers from down syndrome is a person who is born with a wide flat face, sloping eyes and a mental ability that is below average.
There are no cure for down syndrome but we can control symptoms and manage any resulting medical conditions by regular checkups and screenings, medications, and surgery. Counseling can also give treatment for those who need help in coping with the emotional and practical aspects of Down syndrome.
Can down syndrome fully recovered?
Are people who suffer from down syndrome born with this disease?
Canavan Disease
Canavan disease was first described in 1931 by Myrtelle Canavan.
Canavan disease may occur in any ethnic group, it affects persons of Eastern European Jewishancestry more frequently. About 1/40 of Eastern European Jewish ancestry are carriers.
Canavan disease can cause mental retardation, feeding difficulties, abonormal muscle tone (floppiness or stiffness), poor head control, abnormally enlarged head. Paralysis, blindness, and seizures can also occur.
There is no cure for Canavan disease, nor is there a standard course of treatment.
How frequent is it?
ReplyDeleteFrom what i've read it's about 1 out of 800 births
ReplyDelete