Chromosomal genetic disorders occur when chromosomes are partially or completely missing, altered or duplicated. An example of a chromosomal genetic disorder is Down syndrome. Down syndrome is the result of an extra, third copy of chromosome 21 being present in a person.
Cri-du-chat (cat's cry) syndrome, also known as 5p- (5p minus) syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing. Infants with this condition often have a high-pitched cry that sounds like that of a cat.
Klinefelter syndrome is a genetic disorder that doesn’t have a cure, but most men who have it can live normal, healthy lives. Learn the causes, symptoms, and treatments.
I have done some reading about having an orphaned kitten and problems with what is called "single kitten syndrome", a lot of biting, scratching, just bad manners due to being taken away from the mama to early, or orphaned at a young age.
Angelman syndrome (AS) is a genetic disorder that mainly affects the nervous system. Symptoms include a small head and a specific facial appearance, severe intellectual disability, developmental disability, speech problems, balance and movement problems, seizures, and sleep problems.
Down syndrome aka trisomy 21 is the most common birth defect in the United States. Learn more about the causes, symptoms and risks of Down Syndrome.
Fragile X syndrome (FXS) is an inherited genetic disease passed down from parents to children that causes intellectual and developmental disabilities. It’s also known as Martin-Bell syndrome. FXS is the most common hereditary cause of mental disability in boys. It affects 1 in 4,000 boys.
Neurofibromatosis type 1 is a condition characterized by changes in skin coloring (pigmentation) and the growth of tumors along nerves in the skin, brain, and other parts of the body. The signs and symptoms of this condition vary widely among affected people.
Prader-Willi (PRAH-dur VIL-e) syndrome is a rare genetic disorder that results in a number of physical, mental and behavioral problems. A key feature of Prader-Willi syndrome is a constant sense of hunger that usually begins at about 2 years of age.
A diagnosis of Rett syndrome is based on a girl’s pattern of symptoms and behavior. Doctors can make the diagnosis based on these observations alone and by talking to the girl’s parents about things like when the symptoms started.