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.
The first signs of Angelman syndrome are usually developmental delays, such as lack of crawling or babbling, between 6 and 12 months. If your child seems to have developmental delays or if your child has other signs or symptoms of Angelman syndrome, make an appointment with your child's doctor.
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.
Down syndrome is a condition in which a person is born with an extra copy of chromosome 21. People with Down syndrome can have physical problems, as well as intellectual disabilities.
Prader-Willi syndrome is a genetic disorder that causes chronic eating and constant hunger and can often lead to obesity. Experts say that with early diagnosis and careful calorie restriction, people with this genetic disorder can maintain a healthy weight.
If you are the parent of a person with Rett Syndrome, please register your child ... adheres to the principles laid down under the Data ... with a Rett Disorder, it ...